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Short palm

MedGen UID:
425240
Concept ID:
CN003783
Finding
Synonyms: Hypoplastic hands; Short hands; SHORT PALMS
 
HPO: HP:0004279

Definition

Short palm. [from HPO]

Term Hierarchy

Conditions with this feature

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.
Complete trisomy 21 syndrome
MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.
Hallermann-Streiff syndrome
MedGen UID:
5414
Concept ID:
C0018522
Congenital Abnormality
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).
Mohr syndrome
MedGen UID:
10077
Concept ID:
C0026363
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.
Rothmund-Thomson syndrome
MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include dysplasias, absent or malformed bones (such as absent radii), osteopenia, and delayed bone formation.
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Prader-Willi (PWS) syndrome is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common; characteristic facial features, strabismus, and scoliosis are often present, and non-insulin-dependent diabetes mellitus often occurs in obese individuals.
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.
Dubowitz's syndrome
MedGen UID:
59797
Concept ID:
C0175691
Congenital Abnormality
A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes.
Aarskog syndrome
MedGen UID:
61234
Concept ID:
C0175701
Congenital Abnormality
Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).
Aicardi's syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.
Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
67398
Concept ID:
C0220748
Congenital Abnormality
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes: Metaphyseal dysplasia without hypotrichosis (MDWH), Cartilage-hair hypoplasia (CHH), and Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature which is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility and often fine silky hair, immunodeficiency, anemia, impaired spermatogenesis, gastrointestinal dysfunction, and increased risk for malignancy. The most severe phenotype (AD), which has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Robinow syndrome
MedGen UID:
78535
Concept ID:
C0265205
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly); genital abnormalities (in males: micropenis/webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora); dysmorphic facial features; dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth); bilobed tongue; occasional prenatal macrocephaly with postnatal decrease in head circumference. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defect, cleft lip/palate, and rarely cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality.
Ruvalcaba syndrome
MedGen UID:
120520
Concept ID:
C0265248
Disease or Syndrome
A dysmorphic syndrome characterized by short stature, microcephaly, mental deficiency, peculiar facies, hypoplastic genitalia, and skeletal anomalies.
Fibrochondrogenesis
MedGen UID:
82700
Concept ID:
C0265282
Congenital Abnormality
Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.
Geleophysic dysplasia
MedGen UID:
78549
Concept ID:
C0265287
Congenital Abnormality
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.
Hennekam lymphangiectasia-lymphedema syndrome
MedGen UID:
137946
Concept ID:
C0340834
Congenital Abnormality
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28.
Metageria
MedGen UID:
96063
Concept ID:
C0406584
Disease or Syndrome
Type IV short rib polydactyly syndrome
MedGen UID:
96578
Concept ID:
C0432198
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).
Otospondylomegaepiphyseal dysplasia
MedGen UID:
140925
Concept ID:
C0432210
Congenital Abnormality
Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. People with OSMED are often shorter than average because the bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-tone hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Virtually all affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of OSMED tend to diminish during childhood, but other signs and symptoms, such as hearing loss and joint pain, persist into adulthood.
Autosomal recessive spondyloepimetaphyseal dysplasia
MedGen UID:
98476
Concept ID:
C0432213
Congenital Abnormality
Opsismodysplasia
MedGen UID:
140927
Concept ID:
C0432219
Disease or Syndrome
Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013).
Osteoglophonic dysplasia
MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images. Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia. The craniosynostosis associated with this disorder may give the head a tall appearance, often referred to in the medical literature as a tower-shaped skull, or a relatively mild version of a deformity called a cloverleaf skull. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), a large tongue (macroglossia), a protruding jaw (prognathism), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva). Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals have short, bowed legs and arms and are short in stature. They also have flat feet and short, broad hands and fingers. The life expectancy of people with osteoglophonic dysplasia depends on the extent of their craniofacial abnormalities; those that obstruct the air passages and affect the mouth and teeth can lead to respiratory problems and cause difficulty with eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in this disorder.
Curry-Hall syndrome
MedGen UID:
141594
Concept ID:
C0457013
Congenital Abnormality
Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997).
Hyperhidrosis, premature cavities and premolar aplasia
MedGen UID:
99140
Concept ID:
C0457014
Congenital Abnormality
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, and behavioral abnormalities. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory integration issues are frequently noted. Children and adults typically have inattention, distractibility, hyperactivity, impulsivity, maladaptive behaviors including frequent outbursts/temper tantrums, attention seeking, disobedience, aggression, toileting difficulties, and self-injurious behaviors (SIB) including self-hitting, self-biting, and/or skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. The finger lick and page flipping ("lick and flip") behavior may be less prevalent than initially reported. An underlying developmental asynchrony, specifically between intellectual functioning and emotional maturity, may also contribute to maladaptive behaviors in people with SMS.
Fountain syndrome
MedGen UID:
208650
Concept ID:
C0795944
Disease or Syndrome
Coarse facies, mental retardation, hearing loss, and skeletal abnormalities are the major symptoms.
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.
Peters plus syndrome
MedGen UID:
163204
Concept ID:
C0796012
Disease or Syndrome
Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay/intellectual disability, characteristic facial features, and cleft lip/palate. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; while some adults have normal cognitive function, intellectual disability can range from mild to severe. Cleft lip is present in 45% and cleft palate in 33%.
Martsolf syndrome
MedGen UID:
208658
Concept ID:
C0796037
Disease or Syndrome
Mental deficiency, gonadal hypofunction, short stature, "old looking" face, cataracts, and other 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.
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).
Atkin syndrome
MedGen UID:
163230
Concept ID:
C0796206
Disease or Syndrome
Acrofacial dysostosis, catania type
MedGen UID:
163236
Concept ID:
C0796243
Disease or Syndrome
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).
Andersen Tawil syndrome
MedGen UID:
327586
Concept ID:
C1563715
Disease or Syndrome
Andersen-Tawil syndrome (referred to as ATS in this entry) is characterized by a triad of episodic flaccid muscle weakness (i.e., periodic paralysis), ventricular arrhythmias and prolonged QT interval, and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
Cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
MedGen UID:
371376
Concept ID:
C1832666
Disease or Syndrome
Velofacioskeletal syndrome
MedGen UID:
322177
Concept ID:
C1833380
Disease or Syndrome
Leri pleonosteosis
MedGen UID:
331978
Concept ID:
C1835450
Disease or Syndrome
Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210), and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015).
Congenital disorder of glycosylation type 1E
MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
Brachydactyly-Mental Retardation syndrome
MedGen UID:
373895
Concept ID:
C1838126
Disease or Syndrome
2q37 microdeletion syndrome is characterized by mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5 (often digit 4 alone) (>50%), short stature, obesity, hypotonia, characteristic facial appearance, autism or autism spectrum disorder (30%), joint hypermobility/dislocation, and scoliosis. Other findings include seizures (20%-35%), congenital heart disease, CNS abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, situs abnormalities, gastrointestinal abnormalities, and renal malformations. Wilms tumor has been reported in two individuals.
Multiple epiphyseal dysplasia 2
MedGen UID:
333092
Concept ID:
C1838429
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents early in childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Early infantile epileptic encephalopathy 2
MedGen UID:
326463
Concept ID:
C1839333
Disease or Syndrome
EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (312750), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
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).
Gms syndrome
MedGen UID:
374804
Concept ID:
C1841854
Disease or Syndrome
Acrocapitofemoral dysplasia
MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome
Mental retardation, X-linked, with short stature
MedGen UID:
375754
Concept ID:
C1845845
Disease or Syndrome
Armfield X-linked mental retardation syndrome
MedGen UID:
375800
Concept ID:
C1846057
Disease or Syndrome
Spondyloepimetaphyseal dysplasia X-linked
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
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, temperature spikes not associated with infections, and 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 often 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.
Schinzel-Giedion syndrome
MedGen UID:
341423
Concept ID:
C1849294
Disease or Syndrome
Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).
Robinow syndrome, autosomal recessive
MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature with growth retardation, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
Disproportionate short stature with ptosis and valvular heart lesions
MedGen UID:
338866
Concept ID:
C1852073
Disease or Syndrome
Microcephalic primordial dwarfism Toriello type
MedGen UID:
381556
Concept ID:
C1855089
Disease or Syndrome
Metaphyseal dysostosis mental retardation conductive deafness
MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
Metaphyseal acroscyphodysplasia
MedGen UID:
344453
Concept ID:
C1855243
Disease or Syndrome
Kenny-Caffey syndrome type 1
MedGen UID:
340923
Concept ID:
C1855648
Disease or Syndrome
Hypoparathyroidism retardation dysmorphism syndrome
MedGen UID:
340984
Concept ID:
C1855840
Disease or Syndrome
Growth retardation, small and puffy hands and feet, and eczema
MedGen UID:
343510
Concept ID:
C1856242
Disease or Syndrome
Camptodactyly syndrome Guadalajara type 1
MedGen UID:
395241
Concept ID:
C1859359
Disease or Syndrome
Trichorhinophalangeal syndrome type 3
MedGen UID:
349899
Concept ID:
C1860823
Disease or Syndrome
Brachydactyly type A1
MedGen UID:
354673
Concept ID:
C1862151
Disease or Syndrome
In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1 Another locus for this phenotype, designated BDA1B (607004), has been mapped to chromosome 5. A third form of BDA1, BDA1C (615072), is caused by mutation in the GDF5 gene (601146) on chromosome 20q11.
Plantar lipomatosis, unusual facies, and developmental delay
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).
Acrofacial dysostosis Palagonia type
MedGen UID:
355645
Concept ID:
C1866168
Disease or Syndrome
Scholte syndrome
MedGen UID:
401129
Concept ID:
C1866985
Disease or Syndrome
Meier-Gorlin syndrome
MedGen UID:
401501
Concept ID:
C1868684
Congenital Abnormality
Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect. Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age). Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair. Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
MedGen UID:
435975
Concept ID:
C2673649
Disease or Syndrome
Craniofacioskeletal syndrome
MedGen UID:
394716
Concept ID:
C2678036
Disease or Syndrome
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
MedGen UID:
412914
Concept ID:
C2750234
Disease or Syndrome
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
MedGen UID:
416652
Concept ID:
C2751870
Disease or Syndrome
Clark-Baraitser syndrome
MedGen UID:
443983
Concept ID:
C2931130
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 4q21 deletion syndrome
MedGen UID:
462106
Concept ID:
C3150756
Disease or Syndrome
Chromosome 17p13.1 deletion syndrome
MedGen UID:
462419
Concept ID:
C3151069
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).
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.
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.
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
MedGen UID:
482685
Concept ID:
C3281055
Disease or Syndrome
Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
WAHAB SYNDROME
MedGen UID:
767525
Concept ID:
C3554611
Disease or Syndrome

Recent clinical studies

Etiology

Jiang YV, Capistrano CG, Palm BE
J Abnorm Psychol 2014 Feb;123(1):248-57. doi: 10.1037/a0035420. PMID: 24661175
Leonard JH, Ali JE, Vikram M, Saraswathy V, Hanif FM, Nihayah M, Ayiesah R
Clin Ter 2013;164(5):403-6. PMID: 24217825
Alayoubi A, Alqahtani S, Kaddoumi A, Nazzal S
AAPS J 2013 Oct;15(4):1168-79. Epub 2013 Aug 30 doi: 10.1208/s12248-013-9525-z. [Epub ahead of print] PMID: 23990503Free PMC Article
Palm U, Fintescu Z, Obermeier M, Schiller C, Reisinger E, Keeser D, Pogarell O, Bondy B, Zill P, Padberg F
J Affect Disord 2013 Sep 5;150(2):659-63. Epub 2013 May 7 doi: 10.1016/j.jad.2013.03.015. [Epub ahead of print] PMID: 23664268
Allena M, Cuzzoni MG, Tassorelli C, Nappi G, Antonaci F
J Headache Pain 2012 Oct;13(7):537-41. Epub 2012 Jul 28 doi: 10.1007/s10194-012-0473-2. [Epub ahead of print] PMID: 22842873Free PMC Article

Diagnosis

Wright TM, Goharian I, Gardiner SK, Sehi M, Greenfield DS
Am J Ophthalmol 2015 Feb;159(2):378-85.e1. Epub 2014 Nov 13 doi: 10.1016/j.ajo.2014.11.012. [Epub ahead of print] PMID: 25447113
Jiang YV, Capistrano CG, Palm BE
J Abnorm Psychol 2014 Feb;123(1):248-57. doi: 10.1037/a0035420. PMID: 24661175
Tobin SJ, Cacao EE, Hong DW, Terenius L, Vukojevic V, Jovanovic-Talisman T
PLoS One 2014;9(2):e87225. Epub 2014 Feb 4 doi: 10.1371/journal.pone.0087225. PMID: 24503624Free PMC Article
Bunse T, Wobrock T, Strube W, Padberg F, Palm U, Falkai P, Hasan A
Brain Stimul 2014 Mar-Apr;7(2):158-69. Epub 2013 Dec 14 doi: 10.1016/j.brs.2013.08.009. [Epub ahead of print] PMID: 24472621
Allena M, Cuzzoni MG, Tassorelli C, Nappi G, Antonaci F
J Headache Pain 2012 Oct;13(7):537-41. Epub 2012 Jul 28 doi: 10.1007/s10194-012-0473-2. [Epub ahead of print] PMID: 22842873Free PMC Article

Therapy

Palm U, Fintescu Z, Obermeier M, Schiller C, Reisinger E, Keeser D, Pogarell O, Bondy B, Zill P, Padberg F
J Affect Disord 2013 Sep 5;150(2):659-63. Epub 2013 May 7 doi: 10.1016/j.jad.2013.03.015. [Epub ahead of print] PMID: 23664268
Palm U, Reisinger E, Keeser D, Kuo MF, Pogarell O, Leicht G, Mulert C, Nitsche MA, Padberg F
Brain Stimul 2013 Jul;6(4):690-5. Epub 2013 Feb 8 doi: 10.1016/j.brs.2013.01.005. [Epub ahead of print] PMID: 23415938
Mohamed S, Lee Ming T, Jaffri JM
J Sci Food Agric 2013 Mar 15;93(4):819-27. Epub 2012 Sep 24 doi: 10.1002/jsfa.5802. [Epub ahead of print] PMID: 23001939
Allena M, Cuzzoni MG, Tassorelli C, Nappi G, Antonaci F
J Headache Pain 2012 Oct;13(7):537-41. Epub 2012 Jul 28 doi: 10.1007/s10194-012-0473-2. [Epub ahead of print] PMID: 22842873Free PMC Article
Matsuda K, Kobayashi H, Watanuki S
Appl Human Sci 1996 Mar;15(2):75-80. PMID: 8739759

Prognosis

Palm U, Reisinger E, Keeser D, Kuo MF, Pogarell O, Leicht G, Mulert C, Nitsche MA, Padberg F
Brain Stimul 2013 Jul;6(4):690-5. Epub 2013 Feb 8 doi: 10.1016/j.brs.2013.01.005. [Epub ahead of print] PMID: 23415938
Pepper GM, Steinsapir J, Reynolds K
Diabetes Technol Ther 2012 Aug;14(8):654-7. Epub 2012 Jun 12 doi: 10.1089/dia.2012.0030. [Epub ahead of print] PMID: 22690923
Høivik ML, Bernklev T, Solberg IC, Cvancarova M, Lygren I, Jahnsen J, Moum B; IBSEN Study Group
J Crohns Colitis 2012 May;6(4):441-53. Epub 2011 Nov 9 doi: 10.1016/j.crohns.2011.10.001. [Epub ahead of print] PMID: 22398064
Chui WW, Cheung EF, Lam LC
Int J Geriatr Psychiatry 2011 May;26(5):458-65. Epub 2010 Jul 9 doi: 10.1002/gps.2548. [Epub ahead of print] PMID: 20623776
Almehdi AM, Maraqa M, Abdulkhalik S
Int J Environ Health Res 2005 Jun;15(3):217-24. doi: 10.1080/09603120500105745. PMID: 16134484

Clinical prediction guides

Tobin SJ, Cacao EE, Hong DW, Terenius L, Vukojevic V, Jovanovic-Talisman T
PLoS One 2014;9(2):e87225. Epub 2014 Feb 4 doi: 10.1371/journal.pone.0087225. PMID: 24503624Free PMC Article
Dippmann C, Thorborg K, Kraemer O, Winge S, Palm H, Hölmich P
Knee Surg Sports Traumatol Arthrosc 2014 Apr;22(4):744-9. Epub 2014 Feb 6 doi: 10.1007/s00167-014-2885-9. [Epub ahead of print] PMID: 24497058
Palm U, Fintescu Z, Obermeier M, Schiller C, Reisinger E, Keeser D, Pogarell O, Bondy B, Zill P, Padberg F
J Affect Disord 2013 Sep 5;150(2):659-63. Epub 2013 May 7 doi: 10.1016/j.jad.2013.03.015. [Epub ahead of print] PMID: 23664268
Palm U, Reisinger E, Keeser D, Kuo MF, Pogarell O, Leicht G, Mulert C, Nitsche MA, Padberg F
Brain Stimul 2013 Jul;6(4):690-5. Epub 2013 Feb 8 doi: 10.1016/j.brs.2013.01.005. [Epub ahead of print] PMID: 23415938
Høivik ML, Bernklev T, Solberg IC, Cvancarova M, Lygren I, Jahnsen J, Moum B; IBSEN Study Group
J Crohns Colitis 2012 May;6(4):441-53. Epub 2011 Nov 9 doi: 10.1016/j.crohns.2011.10.001. [Epub ahead of print] PMID: 22398064

Recent systematic reviews

Bunse T, Wobrock T, Strube W, Padberg F, Palm U, Falkai P, Hasan A
Brain Stimul 2014 Mar-Apr;7(2):158-69. Epub 2013 Dec 14 doi: 10.1016/j.brs.2013.08.009. [Epub ahead of print] PMID: 24472621
O'Connor D, Page MJ, Marshall SC, Massy-Westropp N
Cochrane Database Syst Rev 2012 Jan 18;1:CD009600. doi: 10.1002/14651858.CD009600. PMID: 22259003
Harrington CA, English C
Pharmacotherapy 2011 Sep;31(9):840-9. doi: 10.1592/phco.31.9.840. PMID: 21923584
Brosseau L, Robinson V, Wells G, Debie R, Gam A, Harman K, Morin M, Shea B, Tugwell P
Cochrane Database Syst Rev 2005 Oct 19;(4):CD002049. doi: 10.1002/14651858.CD002049.pub2. PMID: 16235295
Brosseau L, Welch V, Wells G, Tugwell P, de Bie R, Gam A, Harman K, Shea B, Morin M
J Rheumatol 2000 Aug;27(8):1961-9. PMID: 10955339

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