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Full cheeks

MedGen UID:
355661
Concept ID:
C1866231
Finding
Synonyms: Apple cheeks; Big cheeks; Chubby cheeks; Large cheeks; Puffy cheeks
 
HPO: HP:0000293

Definition

Increased prominence or roundness of soft tissues between zygomata and mandible. [from HPO]

Term Hierarchy

Conditions with this feature

Mucopolysaccharidosis, MPS-I-S
MedGen UID:
6453
Concept ID:
C0026708
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common.
Pseudohypoparathyroidism type 1A
MedGen UID:
46178
Concept ID:
C0033806
Disease or Syndrome
Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH; 168450). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, 188540) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006). In contrast, pseudopseudohypoparathyroidism (PPHP; 612463) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.
Pseudopseudohypoparathyroidism
MedGen UID:
10995
Concept ID:
C0033835
Disease or Syndrome
Patients with pseudopseudohypoparathyroidism do not show resistance to parathyroid hormone (PTH; 168450) or other hormones, as is the case with PHP1A (103580), but do manifest the constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PPHP occurs only after paternal inheritance of the molecular defect, whereas PHP1A occurs only after maternal inheritance of the molecular defect (see Inheritance and Pathogenesis below). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele (Davies and Hughes, 1993; Wilson et al., 1994). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580).
Schwartz Jampel syndrome type 1
MedGen UID:
19892
Concept ID:
C0036391
Congenital Abnormality
Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.
Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common.
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 poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Pallister-Killian syndrome
MedGen UID:
120540
Concept ID:
C0265449
Disease or Syndrome
Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).
Combined molybdoflavoprotein enzyme deficiency
MedGen UID:
75652
Concept ID:
C0268119
Disease or Syndrome
Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor Deficiency See also MOCOD, complementation group B (MOCODB; 252160), caused by mutation in the MOCS2 gene (602708) on chromosome 5q11; and MOCOD, complementation group C (MOCODC; 615501), caused by mutation in the GPHN gene (603930) on chromosome 14q24.
Hyperlysinuria with hyperammonemia
MedGen UID:
120650
Concept ID:
C0268555
Disease or Syndrome
Cranioectodermal dysplasia 1
MedGen UID:
96586
Concept ID:
C0432235
Congenital Abnormality
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others.Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin.Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.
Mandibuloacral dysostosis
MedGen UID:
98485
Concept ID:
C0432291
Congenital Abnormality
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).
3-Methylglutaconic aciduria type 2
MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Toriello Carey syndrome
MedGen UID:
163225
Concept ID:
C0796184
Disease or Syndrome
The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003).
Hajdu-Cheney syndrome
MedGen UID:
182961
Concept ID:
C0917715
Congenital Abnormality
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).
Iridocorneal endothelial syndrome
MedGen UID:
326697
Concept ID:
C1840283
Disease or Syndrome
This syndrome has features of ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.
Giant pigmented hairy nevus
MedGen UID:
330752
Concept ID:
C1842036
Neoplastic Process
Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, 155600), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (249400), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012). Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).
Pontocerebellar hypoplasia type 3
MedGen UID:
334225
Concept ID:
C1842687
Disease or Syndrome
Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).
Cold-induced sweating syndrome 1
MedGen UID:
338577
Concept ID:
C1848947
Disease or Syndrome
Crisponi syndrome, the infantile presentation of cold-induced sweating syndrome (CISS), is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes), poor suck reflex and severely impaired swallowing, and temperature spikes associated with an increased risk for seizures and sudden death. During the first decade of life, children with CISS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including apprehension or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. In the second decade, progressive thoracolumbar kyphoscoliosis requires intervention.
PEHO syndrome
MedGen UID:
342404
Concept ID:
C1850055
Disease or Syndrome
22q13.3 deletion syndrome
MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
Phelan-McDermid syndrome (22q13.3 deletion syndrome) is characterized by neonatal hypotonia, global developmental delay, absent to severely delayed speech, and normal to accelerated growth. Most individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autistic-like affect.
Molybdenum cofactor deficiency, complementation group A
MedGen UID:
381530
Concept ID:
C1854988
Disease or Syndrome
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood.Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.
Molybdenum cofactor deficiency, complementation group B
MedGen UID:
340760
Concept ID:
C1854989
Disease or Syndrome
Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (252150), which is clinically indistinguishable from MOCODB.
Frank Ter Haar syndrome
MedGen UID:
383652
Concept ID:
C1855305
Disease or Syndrome
The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).
Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
MedGen UID:
347941
Concept ID:
C1859724
Disease or Syndrome
Pierpont syndrome
MedGen UID:
356049
Concept ID:
C1865644
Disease or Syndrome
Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Pitt-Hopkins syndrome
MedGen UID:
370910
Concept ID:
C1970431
Disease or Syndrome
Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial features which become more apparent with age (100%), developmental delay/intellectual disability (100%), and episodic hyperventilation and/or breath-holding while awake (55%-60%). Global developmental delays are significant and intellectual disability is moderate to severe: mean age of walking is four to six years; most affected individuals are nonverbal. Other common findings are behavioral issues, hand stereotypic movements, seizures (40%-50%), constipation, and severe myopia.
Pseudohypoparathyroidism type 1C
MedGen UID:
436554
Concept ID:
C2675910
Disease or Syndrome
Pseudohypoparathyroidism type Ic (PHP1C) is characterized by resistance to parathyroid hormone (PTH; 168450) as well as to other hormones. It is associated with a constellation of physical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. Laboratory studies in patients with PHP Ic show a decreased cellular cyclic AMP (cAMP) response to infused PTH, but no defect in activity of the erythrocyte Gs protein (Mantovani and Spada, 2006).
Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features
MedGen UID:
414494
Concept ID:
C2751864
Disease or Syndrome
Geleophysic dysplasia 2
MedGen UID:
481684
Concept ID:
C3280054
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1.
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).
Microcephaly, epilepsy, and diabetes syndrome
MedGen UID:
481870
Concept ID:
C3280240
Disease or Syndrome
MEDS is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011).
Arthrogryposis, perthes disease, and upward gaze palsy
MedGen UID:
481939
Concept ID:
C3280309
Disease or Syndrome
Asphyxiating thoracic dystrophy 5
MedGen UID:
482228
Concept ID:
C3280598
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Cranioectodermal dysplasia 4
MedGen UID:
482246
Concept ID:
C3280616
Disease or Syndrome
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330).
Infantile liver failure syndrome 1
MedGen UID:
815852
Concept ID:
C3809522
Disease or Syndrome
Auriculocondylar syndrome 3
MedGen UID:
816662
Concept ID:
C3810332
Disease or Syndrome
Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013). For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
MedGen UID:
862965
Concept ID:
C4014528
Disease or Syndrome
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
MedGen UID:
895680
Concept ID:
C4225359
Disease or Syndrome
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
MedGen UID:
907234
Concept ID:
C4225398
Disease or Syndrome

Recent clinical studies

Etiology

Goodwin AF, Oberoi S, Landan M, Charles C, Massie JC, Fairley C, Rauen KA, Klein OD
Am J Med Genet A 2014 Jun;164A(6):1425-30. Epub 2014 Mar 25 doi: 10.1002/ajmg.a.36475. PMID: 24668879Free PMC Article
Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K
Gene 2013 Jan 10;512(2):456-9. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.10.060. PMID: 23124041
Alsaied T, Charafeddine L, Rajab M, Muwakkit S
J Pediatr Hematol Oncol 2011 Dec;33(8):e352-4. doi: 10.1097/MPH.0b013e31821c915d. PMID: 22009007
Yaremchuk MJ, Kahn DM
Plast Reconstr Surg 2009 Dec;124(6):2151-60. doi: 10.1097/PRS.0b013e3181bcf5bc. PMID: 19952674
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article

Diagnosis

Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N
Am J Med Genet A 2015 Oct;167A(10):2418-24. Epub 2015 May 31 doi: 10.1002/ajmg.a.37185. PMID: 26033841
Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D
Am J Med Genet A 2013 Feb;161A(2):295-300. Epub 2013 Jan 10 doi: 10.1002/ajmg.a.35735. PMID: 23307537
El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L
Eur J Hum Genet 2013 Jul;21(7):736-42. Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.251. PMID: 23188044Free PMC Article
Kinsler V, Shaw AC, Merks JH, Hennekam RC
Am J Med Genet A 2012 May;158A(5):1014-9. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.34217. PMID: 22438093
Panigrahi I, Bhushan M, Yadav M, Khandelwal N, Singhi P
J Neurol Sci 2012 Feb 15;313(1-2):178-81. Epub 2011 Oct 24 doi: 10.1016/j.jns.2011.09.039. PMID: 22029941

Therapy

Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K
Gene 2013 Jan 10;512(2):456-9. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.10.060. PMID: 23124041
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Am J Med Genet A 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. PMID: 20186812

Prognosis

Belligni EF, Hennekam RC
Eur J Med Genet 2010 Jul-Aug;53(4):192-6. Epub 2010 Apr 1 doi: 10.1016/j.ejmg.2010.03.009. PMID: 20362700
Yaremchuk MJ, Kahn DM
Plast Reconstr Surg 2009 Dec;124(6):2151-60. doi: 10.1097/PRS.0b013e3181bcf5bc. PMID: 19952674
Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O
Am J Med Genet A 2009 Jul;149A(7):1487-93. doi: 10.1002/ajmg.a.32889. PMID: 19530187
Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y
Eur J Med Genet 2009 Jul-Aug;52(4):247-9. Epub 2009 Mar 19 doi: 10.1016/j.ejmg.2009.03.005. PMID: 19303467
Ounap K, Ilus T, Bartsch O
Am J Med Genet A 2005 May 1;134(4):434-8. doi: 10.1002/ajmg.a.30134. PMID: 15793836

Clinical prediction guides

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L
Eur J Hum Genet 2013 Jul;21(7):736-42. Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.251. PMID: 23188044Free PMC Article
Kinsler V, Shaw AC, Merks JH, Hennekam RC
Am J Med Genet A 2012 May;158A(5):1014-9. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.34217. PMID: 22438093
Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D
Eur J Hum Genet 2012 May;20(5):580-3. Epub 2012 Jan 18 doi: 10.1038/ejhg.2011.243. PMID: 22258531Free PMC Article
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P
Am J Hum Genet 2011 Aug 12;89(2):295-301. Epub 2011 Jul 28 doi: 10.1016/j.ajhg.2011.06.012. PMID: 21802062Free PMC Article
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Am J Med Genet A 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. PMID: 20186812

Recent systematic reviews

Tschernigg M, Petek E, Wagner K, Kroisel PM
Genet Couns 2002;13(1):29-33. PMID: 12017235

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