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Abnormality of the voice

MedGen UID:
425062
Concept ID:
CN001464
Finding
Synonyms: Voice abnormality
 
HPO: HP:0001608

Definition

Any abnormality of the voice. [from HPO]

Conditions with this feature

Supravalvar aortic stenosis
MedGen UID:
2001
Concept ID:
C0003499
Disease or Syndrome
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Fibrous dysplasia of jaw
MedGen UID:
40219
Concept ID:
C0008029
Disease or Syndrome
Cherubism is characterized by progressive, painless, bilateral enlargement of the mandible and/or maxilla resulting from replacement of bone with multilocular cysts composed of fibrotic stromal cells and osteoclast-like cells. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. Onset is typically between ages two and five years. Other bones are usually not affected and the affected person is otherwise normal. The jaw lesions progress slowly until puberty when they stabilize and then regress. Dental abnormalities include congenitally missing teeth, premature exfoliation of the deciduous teeth, and displacement of permanent teeth by the jaw lesions. By age 30 years, facial abnormalities are no longer apparent; residual jaw deformity is rare.
5p partial monosomy syndrome
MedGen UID:
41345
Concept ID:
C0010314
Congenital Abnormality
Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.
Cystinosis
MedGen UID:
1207
Concept ID:
C0010690
Disease or Syndrome
Nephropathic cystinosis in untreated children is characterized by renal tubular Fanconi syndrome, poor growth, hypophosphatemic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine crystals in almost all cells, leading to cellular destruction and tissue dysfunction. The typical untreated child has short stature, light complexion, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these therapies, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized only by photophobia resulting from corneal cystine crystal accumulation.
Fanconi syndrome
MedGen UID:
4653
Concept ID:
C0015624
Disease or Syndrome
Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular Syndrome Fanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also autosomal recessive FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35, and autosomal dominant FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27.
Huntington's chorea
MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset.
Lipid proteinosis
MedGen UID:
6112
Concept ID:
C0023795
Disease or Syndrome
Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).
Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years.
Hutchinson-Gilford syndrome
MedGen UID:
46123
Concept ID:
C0033300
Disease or Syndrome
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is characterized by clinical features that develop in childhood and resemble some features of accelerated aging. Although signs and symptoms vary in age of onset and severity, they are remarkably consistent overall. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facies, with receding mandible, narrow nasal bridge and pointed nasal tip develop. During the first to third year the following usually become apparent: partial alopecia progressing to total alopecia, loss of subcutaneous fat, progressive joint contractures, bone changes, nail dystrophy, and abnormal tightness and/or small soft outpouchings of the skin over the abdomen and upper thighs, and delayed primary tooth eruption. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Additional findings present in some but not all affected individuals include photophobia, excessive ocular tearing, exposure keratitis, and Raynaud phenomenon. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 13 years.
Rett's disorder
MedGen UID:
48441
Concept ID:
C0035372
Disease or Syndrome
MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A MECP2 mutation in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 mutations are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males.
Stuttering, familial persistent 1
MedGen UID:
20932
Concept ID:
C0038131
Mental or Behavioral Dysfunction
Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010). Stuttering typically arises in young children, where it affects at least 15% of those in age range 4 to 6 years (Bloodstein, 1995). Stuttering usually resolves spontaneously before adolescence, leading to a population prevalence of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 (Yairi et al., 1996). Genetic Heterogeneity of Familial Persistent Stuttering STUT1 maps to chromosome 18q; STUT2 (609261) maps to chromosome 12q24; STUT3 (614655) maps to chromosome 3q; and STUT4 (614668) maps to chromosome 16q.
Palatopharyngeal incompetence
MedGen UID:
52992
Concept ID:
C0042454
Anatomical Abnormality
Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.
Werner syndrome
MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
Carcinoma of esophagus
MedGen UID:
56256
Concept ID:
C0152018
Neoplastic Process
A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage.
Complete trisomy 18 syndrome
MedGen UID:
56262
Concept ID:
C0152096
Congenital Abnormality
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Oromandibular-limb hypogenesis spectrum
MedGen UID:
66357
Concept ID:
C0221060
Congenital Abnormality
The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.
Familial hyperkalemic periodic paralysis
MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands. Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.
Thyroid Hormone Resistance Syndrome
MedGen UID:
66928
Concept ID:
C0242604
Disease or Syndrome
Laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Congenital Abnormality
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
Cohen syndrome
MedGen UID:
78539
Concept ID:
C0265223
Disease or Syndrome
Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.
Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
The term galactosemia refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia. This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E. coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening (NBS) as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications including POI.
Farber's lipogranulomatosis
MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013).
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
MedGen UID:
75667
Concept ID:
C0268297
Disease or Syndrome
Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
Familial amyloid nephropathy with urticaria AND deafness
MedGen UID:
120634
Concept ID:
C0268390
Disease or Syndrome
Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features.
Infantile hypophosphatasia
MedGen UID:
75677
Concept ID:
C0268412
Disease or Syndrome
Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. At least six clinical forms are currently recognized based on age at diagnosis and severity of features: Perinatal (lethal) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into the milder childhood or adult form. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets. Adult hypophosphatasia characterized by early loss of adult dentition and stress fractures and pseudofractures of the lower extremities in middle age. Odontohypophosphatasia characterized by premature exfoliation of primary teeth and/or severe dental caries as an isolated finding or as part of the above forms of hypophosphatasia.
Cross syndrome
MedGen UID:
82811
Concept ID:
C0268496
Congenital Abnormality
A syndrome of gingival fibromatosis, pigmentation disorders, microphthalmia, and delayed psychomotor development. It was first observed in the Kramer family, hence the synonym Kramer syndrome.
Laron-type isolated somatotropin defect
MedGen UID:
78776
Concept ID:
C0271568
Disease or Syndrome
Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor. A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by postreceptor defect, i.e. mutation in the STAT5B gene (604260). Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).
Squamous cell carcinoma of esophagus
MedGen UID:
124635
Concept ID:
C0279626
Neoplastic Process
A squamous cell carcinomas arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor.
Somatotroph adenoma
MedGen UID:
91097
Concept ID:
C0346302
Neoplastic Process
AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline mutation in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).
Branchiooculofacial syndrome
MedGen UID:
91261
Concept ID:
C0376524
Congenital Abnormality
The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical [90%] or infra- or supra-auricular [60%]) skin defects that range from barely perceptible thin skin or hair patch to erythematous “hemangiomatous” lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits and lower facial weakness (asymmetric crying face or partial 7(th) cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.
Hereditary liability to pressure palsies
MedGen UID:
98291
Concept ID:
C0393814
Disease or Syndrome
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. The first attack usually occurs in the second or third decade. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected individuals also have signs of a mild to moderate peripheral neuropathy.
Congenital laryngeal abductor palsy
MedGen UID:
96004
Concept ID:
C0396059
Congenital Abnormality
Laryngeal abductor paralysis with inspiratory stridor, swallowing difficulty, asphyxia, and mental deficiency. Adductor laryngeal paralysis (OMIM 150270) is a variant in which hoarseness from birth appears to be the only symptom. Terms familial vocal cord dysfunction and laryngeal abductor paralysis are also used as the synonyms for the Plott syndrome which is transmitted as an X-linked trait.
Hay-Wells syndrome of ectodermal dysplasia
MedGen UID:
98032
Concept ID:
C0406709
Congenital Abnormality
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which includes the Rapp-Hodgkin syndrome, is characterized by ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids); ectodermal defects (sparse wiry hair; skin erosions and unique pigmentary changes; nail changes; dental changes; subjective decrease in sweating capacity); and cleft lip/palate. Nearly 100% of affected neonates have superficial skin erosions that range from very limited to severe, even life-threatening, full body involvement. Scalp erosions at birth and during infancy are typical and, when severe, can lead to scarring alopecia and hypotrichosis. Limb anomalies are common and can include syndactyly of fingers and toes, camptodactyly (permanent and irreducible flexion of the fingers), and ectrodactyly (split hand split foot malformation).
Osteodysplastic primordial dwarfism, type 2
MedGen UID:
96587
Concept ID:
C0432246
Congenital Abnormality
Infantile hypercalcemia
MedGen UID:
99194
Concept ID:
C0475732
Disease or Syndrome
Malignant tumor of esophagus
MedGen UID:
107792
Concept ID:
C0546837
Neoplastic Process
Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal Cancer See a variant in the ADH1B gene (103720.0001) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene (100650.0001) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes. See the S100A14 gene (607986) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal Cancer Somatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (191170), CDKN2A (600160), DEC1 (604767), DCC (120470), DLEC1 (604050), TGFBR2 (190182), LZTS1 (606551), RNF6 (604242), WWOX (605131), APC (611731), and RUNX3 (600210).
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include: hyperopia and/or strabismus; conductive hearing loss; seizures; gastroesophageal reflux; renal anomalies (e.g., hydronephrosis/renal pelviectasis, cysts, and/or agenesis) and genital anomalies (e.g., hypospadias and/or undescended testes).
Potassium aggravated myotonia
MedGen UID:
156269
Concept ID:
C0752355
Disease or Syndrome
In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.
Cleft palate-lateral synechia syndrome
MedGen UID:
162888
Concept ID:
C0795898
Disease or Syndrome
Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. Laster et al. (2001) proposed a classification for bony syngnathia into 4 types. Type 1a is simple anterior syngnathia characterized by bony fusion of the alveolar ridge only; type 1b is complex anterior syngnathia characterized by bony fusion of the alveolar ridges and also associated with other congenital malformations in the head and neck region; type 2a is simple mandibulozygomatic syngnathia characterized by bony fusion of the mandible to zygoma; and type 2b is complex mandibulozygomatic syngnathia characterized by bony fusion of the mandible to the zygoma and associated with cleft palate and/or temporomandibular joint ankylosis.
Edinburgh malformation syndrome
MedGen UID:
167084
Concept ID:
C0795933
Disease or Syndrome
A syndrome reported in an Edinburgh family in which five infants (four female and one male) were found to have a characteristic facial appearance, hydrocephalus, and psychomotor retardation. Some characteristics of this syndrome are similar to those of the de Lange syndrome 1.
Subaortic stenosis short stature syndrome
MedGen UID:
167085
Concept ID:
C0795947
Disease or Syndrome
Mental and somatic retardation with Peters anomaly (defect of the Descemet membrane and deep stromal layers of the cornea), corneal clouding, hypoplastic facies, subvalvular aortic stenosis, and skeletal abnormalities.
Mac Dermot Winter syndrome
MedGen UID:
162900
Concept ID:
C0796024
Disease or Syndrome
A syndrome of prenatal growth deficiency, microcephaly, dysmorphic facies, absent psychomotor development, hypoplastic genitalia, convulsions, and other disorders.
Myhre syndrome
MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011).
Orofaciodigital syndrome 8
MedGen UID:
208667
Concept ID:
C0796101
Disease or Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder. The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.
Simpson-Golabi-Behmel syndrome
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacies (including macrocephaly, coarse facial features, macrostomia, macroglossia, palatal abnormalities); and commonly, mild to severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti/umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and GI anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors, including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, and hepatocellular carcinoma.
Pashayan syndrome
MedGen UID:
163226
Concept ID:
C0796197
Disease or Syndrome
Telecanthus, displacement of the lacrimal puncta, lacrimal defects, masklike facies, and mental deficiency.
Stridor, Congenital
MedGen UID:
163555
Concept ID:
C0858233
Congenital Abnormality
Progeroid short stature with pigmented nevi
MedGen UID:
224702
Concept ID:
C1261128
Disease or Syndrome
Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).
Laryngoonychocutaneous syndrome
MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
Osteopoikilosis, Isolated
MedGen UID:
318940
Concept ID:
C1833699
Disease or Syndrome
Larynx, congenital partial atresia of
MedGen UID:
372073
Concept ID:
C1835555
Disease or Syndrome
Sudden infant death with dysgenesis of the testes syndrome
MedGen UID:
332428
Concept ID:
C1837371
Disease or Syndrome
Rett Syndrome, Preserved Speech Variant
MedGen UID:
374197
Concept ID:
C1839332
Disease or Syndrome
Wilson-Turner X-linked mental retardation syndrome
MedGen UID:
333393
Concept ID:
C1839736
Disease or Syndrome
WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males (summary by Harakalova et al., 2012).
Vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency
MedGen UID:
333986
Concept ID:
C1842082
Disease or Syndrome
Uruguay faciocardiomusculoskeletal syndrome
MedGen UID:
335320
Concept ID:
C1846010
Disease or Syndrome
Hypotonia-cystinuria syndrome
MedGen UID:
341133
Concept ID:
C1848030
Disease or Syndrome
Thalamic degeneration, symmetric infantile
MedGen UID:
376458
Concept ID:
C1848867
Disease or Syndrome
Richieri Costa Pereira syndrome
MedGen UID:
336581
Concept ID:
C1849348
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Pfeiffer Palm Teller syndrome
MedGen UID:
342366
Concept ID:
C1849929
Disease or Syndrome
Nasodigitoacoustic syndrome
MedGen UID:
338088
Concept ID:
C1850627
Disease or Syndrome
Keipert syndrome is characterized by brachydactyly, broad thumbs and halluces, hypertelorism and other minor facial dysmorphic features, and sensorineural deafness. Phenotypically related syndromes include Teunissen-Cremers syndrome (184460), Muenke syndrome (602849) and Keutel syndrome (245150) (Nik-Zainal et al., 2008).
Cyprus facial neuromusculoskeletal syndrome
MedGen UID:
343800
Concept ID:
C1852396
Disease or Syndrome
LARYNGOONYCHOCUTANEOUS SYNDROME
MedGen UID:
383705
Concept ID:
C1855534
Disease or Syndrome
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Hyperphosphatemia, polyuria, and seizures
MedGen UID:
343444
Concept ID:
C1855922
Disease or Syndrome
Congenital Fanconi syndrome
MedGen UID:
341765
Concept ID:
C1857395
Disease or Syndrome
constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration.
Contractures, congenital, torticollis, and malignant hyperthermia
MedGen UID:
347490
Concept ID:
C1857576
Disease or Syndrome
Novak syndrome
MedGen UID:
349091
Concept ID:
C1859083
Finding
Choroid plexus calcification with mental retardation
MedGen UID:
395174
Concept ID:
C1859092
Disease or Syndrome
Microcephalic osteodysplastic primordial dwarfism type 2
MedGen UID:
347148
Concept ID:
C1859451
Disease or Syndrome
Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010).
Tucker syndrome
MedGen UID:
349807
Concept ID:
C1860403
Disease or Syndrome
Ulna metaphyseal dysplasia syndrome
MedGen UID:
348149
Concept ID:
C1860615
Disease or Syndrome
Cole Carpenter syndrome
MedGen UID:
350614
Concept ID:
C1862178
Disease or Syndrome
Primary basilar impression
MedGen UID:
400018
Concept ID:
C1862299
Disease or Syndrome
Primary basilar impression of the skull is a developmental defect of the cranium in which there is invagination of the foramen magnum upward into the posterior cranial fossa. Basilar impression is often associated with other malformations of the notochord and craniovertebral junction, such as occipitalization of the atlas, Klippel-Feil anomaly (see 118100), Chiari type I malformation (118420), and syringomyelia (186700) (Paradis and Sax, 1972; Bhangoo and Crockard, 1999). Secondary basilar impression occurs as a result of generalized skeletal diseases, including hyperparathyroidism (see 145000), Paget disease (see 602080), and osteogenesis imperfecta (see, e.g., 166200). Platybasia refers to a skull base with an abnormally obtuse angle between the planes of the clivus and the anterior fossa. Platybasia may occur in basilar impression, but it is not of medical significance on its own (Bhangoo and Crockard, 1999). Historically, basilar impression was defined radiologically by numerous parameters, including the lines defined by Chamberlain (1939), McGregor (1948), and Fischgold and Metzger (1952), and the angle defined by Bull et al. (1955).
Pituitary adenoma predisposition
MedGen UID:
354959
Concept ID:
C1863340
Disease or Syndrome
Shprintzen omphalocele syndrome
MedGen UID:
356653
Concept ID:
C1866958
Disease or Syndrome
Simosa cranio facial syndrome
MedGen UID:
356655
Concept ID:
C1866962
Disease or Syndrome
Hypophosphatasia, Perinatal Lethal
MedGen UID:
392928
Concept ID:
C2673477
Disease or Syndrome
3q29 microdeletion syndrome
MedGen UID:
393265
Concept ID:
C2674949
Disease or Syndrome
22q11.2 duplication syndrome
MedGen UID:
436417
Concept ID:
C2675369
Disease or Syndrome
22q11.2 duplication is defined for this GeneReview as the presence of a common 3-Mb or 1.5-Mb proximal tandem duplication. The 22q11.2 duplication phenotype appears to be generally mild and highly variable; findings range from apparently normal to intellectual disability/learning disability, delayed psychomotor development, growth retardation, and/or hypotonia. The high frequency with which the 22q11.2 duplication is found in an apparently normal parent of a proband suggests that many individuals can harbor a duplication of 22q11.2 with no discernible phenotypic effect.
2p15-16.1 microdeletion syndrome
MedGen UID:
390902
Concept ID:
C2675875
Disease or Syndrome
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
MedGen UID:
436629
Concept ID:
C2676191
Disease or Syndrome
Somatostatin analog, resistance to
MedGen UID:
390980
Concept ID:
C2676192
Disease or Syndrome
Chromosome 2q32-q33 deletion syndrome
MedGen UID:
436765
Concept ID:
C2676739
Disease or Syndrome
Glass syndrome is a mental retardation syndrome characterized by dysmorphic facial features, including microcephaly, micrognathia, downslanting palpebral fissures, crowded teeth, and cleft palate. Additional features may include seizures, joint laxity, and happy demeanor (summary by Glass et al., 1989 and Urquhart et al., 2009).
Rett syndrome, zappella variant
MedGen UID:
393807
Concept ID:
C2677682
Disease or Syndrome
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
MedGen UID:
398779
Concept ID:
C2713392
Disease or Syndrome
Atypical Rett syndrome
MedGen UID:
440664
Concept ID:
C2748910
Disease or Syndrome
Chromosome Xp11.23-p11.22 duplication syndrome
MedGen UID:
440690
Concept ID:
C2749022
Disease or Syndrome
Cystinosis, atypical nephropathic
MedGen UID:
413668
Concept ID:
C2749685
Disease or Syndrome
Progeria Syndrome, Childhood-Onset
MedGen UID:
442435
Concept ID:
C2750285
Disease or Syndrome
AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO
MedGen UID:
413483
Concept ID:
C2751126
Neoplastic Process
Hyperkaliemic periodic paralysis type 2
MedGen UID:
418942
Concept ID:
C2930895
Disease or Syndrome
Cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Thalamic degeneration symmetrical infantile
MedGen UID:
419748
Concept ID:
C2931220
Disease or Syndrome
Potassium-aggravated myotonia
MedGen UID:
444151
Concept ID:
C2931826
Disease or Syndrome
Cross syndrome
MedGen UID:
423639
Concept ID:
C2936910
Disease or Syndrome
Thyroid Hormone Resistance Syndrome
MedGen UID:
424854
Concept ID:
C2940786
Disease or Syndrome
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO
MedGen UID:
460603
Concept ID:
C3149253
Neoplastic Process
ESCC, SUSCEPTIBILITY TO
MedGen UID:
460604
Concept ID:
C3149254
Finding
GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO
MedGen UID:
460605
Concept ID:
C3149255
Finding
LARYNGOSPASM, SEVERE NEONATAL EPISODIC
MedGen UID:
460867
Concept ID:
C3149517
Disease or Syndrome
Melorheostosis with Osteopoikilosis
MedGen UID:
461045
Concept ID:
C3149695
Disease or Syndrome
15q24 deletion syndrome
MedGen UID:
462024
Concept ID:
C3150674
Disease or Syndrome
The 15q24 microdeletion syndrome is characterized by global developmental delay; mild to severe (usually at least moderate) intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive. Less common findings include: seizures; conductive and sensorineural hearing loss; hypospadias and/ or micropenis. Males and females are affected equally.
CHROMOSOME 15q24 DUPLICATION SYNDROME
MedGen UID:
462025
Concept ID:
C3150675
Disease or Syndrome
Chromosome Xq27.3-q28 duplication syndrome
MedGen UID:
477152
Concept ID:
C3275521
Disease or Syndrome
Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Female carriers may have short stature and premature ovarian failure (summary by Rio et al., 2010).
GALACTOSEMIA, DUARTE VARIANT
MedGen UID:
479776
Concept ID:
C3278146
Disease or Syndrome
Chromosome 8q21.11 deletion syndrome
MedGen UID:
481861
Concept ID:
C3280231
Disease or Syndrome
The chromosome 8q21.11 deletion syndrome is characterized by intellectual disability and common facial dysmorphic features (summary by Palomares et al., 2011).
Stuttering, Familial Persistent 1
MedGen UID:
483580
Concept ID:
C3489627
Disease or Syndrome
Somatotrophinoma, Familial
MedGen UID:
483583
Concept ID:
C3489630
Neoplastic Process
Hypothyroidism, Congenital, Nongoitrous, 1
MedGen UID:
487729
Concept ID:
C3493776
Disease or Syndrome
Infantile nephropathic cystinosis
MedGen UID:
760976
Concept ID:
C3537440
Disease or Syndrome

Recent clinical studies

Etiology

Vicente DA, Solomon NP, Avital I, Henry LR, Howard RS, Helou LB, Coppit GL, Shriver CD, Buckenmaier CC, Libutti SK, Shaha AR, Stojadinovic A
J Am Coll Surg 2014 Jul;219(1):152-63. Epub 2014 Mar 18 doi: 10.1016/j.jamcollsurg.2014.03.019. [Epub ahead of print] PMID: 24745621
Prathanee B, Thanawirattananit P, Thanaviratananich S
J Med Assoc Thai 2013 Sep;96 Suppl 4:S71-80. PMID: 24386745
French N, Kelly R, Vijayasekaran S, Reynolds V, Lipscombe J, Buckland A, Bailey J, Nathan E, Meldrum S
Pediatrics 2013 Mar;131(3):e733-9. Epub 2013 Feb 18 doi: 10.1542/peds.2012-0817. [Epub ahead of print] PMID: 23420908
Sataloff RT, Hawkshaw MJ, Johnson JL, Ruel B, Wilhelm A, Lurie D
J Voice 2012 Sep;26(5):577-83. Epub 2012 Jun 19 doi: 10.1016/j.jvoice.2012.01.002. [Epub ahead of print] PMID: 22717495
Phillips PS, Hirani SP, Epstein R
J Voice 2009 Sep;23(5):521-8. Epub 2008 May 12 doi: 10.1016/j.jvoice.2008.01.006. [Epub ahead of print] PMID: 18468850

Diagnosis

Vicente DA, Solomon NP, Avital I, Henry LR, Howard RS, Helou LB, Coppit GL, Shriver CD, Buckenmaier CC, Libutti SK, Shaha AR, Stojadinovic A
J Am Coll Surg 2014 Jul;219(1):152-63. Epub 2014 Mar 18 doi: 10.1016/j.jamcollsurg.2014.03.019. [Epub ahead of print] PMID: 24745621
French N, Kelly R, Vijayasekaran S, Reynolds V, Lipscombe J, Buckland A, Bailey J, Nathan E, Meldrum S
Pediatrics 2013 Mar;131(3):e733-9. Epub 2013 Feb 18 doi: 10.1542/peds.2012-0817. [Epub ahead of print] PMID: 23420908
Sataloff RT, Hawkshaw MJ, Johnson JL, Ruel B, Wilhelm A, Lurie D
J Voice 2012 Sep;26(5):577-83. Epub 2012 Jun 19 doi: 10.1016/j.jvoice.2012.01.002. [Epub ahead of print] PMID: 22717495
Bone SL, Vertigan AE, Eisenberg RL
Folia Phoniatr Logop 2012;64(2):87-93. Epub 2012 Apr 13 doi: 10.1159/000335779. [Epub ahead of print] PMID: 22507947
Douglas CM, Moore C, Manickam K, Lee L, Sykes A, Carr A, Jones S, Jones J, Swindell R, Homer JJ, Slevin N
J Laryngol Otol 2010 May;124(5):520-8. Epub 2010 Feb 4 doi: 10.1017/S0022215109992787. [Epub ahead of print] PMID: 20128940

Therapy

Vicente DA, Solomon NP, Avital I, Henry LR, Howard RS, Helou LB, Coppit GL, Shriver CD, Buckenmaier CC, Libutti SK, Shaha AR, Stojadinovic A
J Am Coll Surg 2014 Jul;219(1):152-63. Epub 2014 Mar 18 doi: 10.1016/j.jamcollsurg.2014.03.019. [Epub ahead of print] PMID: 24745621
Broka K, Vidzis A, Grigorjevs J, Sokolovs J, Zigurs G
Stomatologija 2013;15(1):20-5. PMID: 23732826
Hung AY, Ahveninen J, Cheng Y
J Child Psychol Psychiatry 2013 Sep;54(9):1016-27. Epub 2013 May 23 doi: 10.1111/jcpp.12076. [Epub ahead of print] PMID: 23701279Free PMC Article
Xu W, Han D, Hu R, Bai Y, Zhang L
Ann Otol Rhinol Laryngol 2012 Oct;121(10):689-94. PMID: 23130546
Hanna BC, Brooker DS
Clin Otolaryngol 2008 Feb;33(1):63-6. doi: 10.1111/j.1749-4486.2007.01592.x. PMID: 18302559

Prognosis

Vicente DA, Solomon NP, Avital I, Henry LR, Howard RS, Helou LB, Coppit GL, Shriver CD, Buckenmaier CC, Libutti SK, Shaha AR, Stojadinovic A
J Am Coll Surg 2014 Jul;219(1):152-63. Epub 2014 Mar 18 doi: 10.1016/j.jamcollsurg.2014.03.019. [Epub ahead of print] PMID: 24745621
French N, Kelly R, Vijayasekaran S, Reynolds V, Lipscombe J, Buckland A, Bailey J, Nathan E, Meldrum S
Pediatrics 2013 Mar;131(3):e733-9. Epub 2013 Feb 18 doi: 10.1542/peds.2012-0817. [Epub ahead of print] PMID: 23420908
Stanton AE, Sellars C, Mackenzie K, McConnachie A, Bucknall CE
J Laryngol Otol 2009 Jan;123(1):96-102. Epub 2008 Jul 22 doi: 10.1017/S002221510800323X. [Epub ahead of print] PMID: 18644167
Hanna BC, Brooker DS
Clin Otolaryngol 2008 Feb;33(1):63-6. doi: 10.1111/j.1749-4486.2007.01592.x. PMID: 18302559
Wolfe VI, Steinfatt TM
J Speech Hear Res 1987 Jun;30(2):230-40. PMID: 3599955

Clinical prediction guides

Vicente DA, Solomon NP, Avital I, Henry LR, Howard RS, Helou LB, Coppit GL, Shriver CD, Buckenmaier CC, Libutti SK, Shaha AR, Stojadinovic A
J Am Coll Surg 2014 Jul;219(1):152-63. Epub 2014 Mar 18 doi: 10.1016/j.jamcollsurg.2014.03.019. [Epub ahead of print] PMID: 24745621
Hung AY, Ahveninen J, Cheng Y
J Child Psychol Psychiatry 2013 Sep;54(9):1016-27. Epub 2013 May 23 doi: 10.1111/jcpp.12076. [Epub ahead of print] PMID: 23701279Free PMC Article
French N, Kelly R, Vijayasekaran S, Reynolds V, Lipscombe J, Buckland A, Bailey J, Nathan E, Meldrum S
Pediatrics 2013 Mar;131(3):e733-9. Epub 2013 Feb 18 doi: 10.1542/peds.2012-0817. [Epub ahead of print] PMID: 23420908
Sataloff RT, Hawkshaw MJ, Johnson JL, Ruel B, Wilhelm A, Lurie D
J Voice 2012 Sep;26(5):577-83. Epub 2012 Jun 19 doi: 10.1016/j.jvoice.2012.01.002. [Epub ahead of print] PMID: 22717495
Bone SL, Vertigan AE, Eisenberg RL
Folia Phoniatr Logop 2012;64(2):87-93. Epub 2012 Apr 13 doi: 10.1159/000335779. [Epub ahead of print] PMID: 22507947

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