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1.

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation. [from GeneReviews]

MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
2.

Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome. [from GeneReviews]

MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
3.

Neonatal pseudo-hydrocephalic progeroid syndrome

Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013). [from OMIM]

MedGen UID:
140806
Concept ID:
C0406586
Disease or Syndrome
4.

Ayme-Gripp syndrome

Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly rotated ears. Hearing loss is often congenital. Other features may include postnatal short stature, seizure disorder, nonspecific brain abnormalities on head imaging, skeletal abnormalities, and joint limitations. A subset of individuals have been found to have pericarditis or pericardial effusion during the neonatal or infantile period. All affected individuals have had developmental delay, but the degree of cognitive impairment is extremely variable. Other features including gastrointestinal and endocrine abnormalities, ectodermal dysplasia (i.e., nail dystrophy and mammary gland hypoplasia), dental anomalies, and chronic glomerulopathy with proteinuria have been reported in rare affected individuals. [from GeneReviews]

MedGen UID:
371416
Concept ID:
C1832812
Disease or Syndrome
5.

Rafiq syndrome

Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by Balasubramanian et al., 2019). [from OMIM]

MedGen UID:
481757
Concept ID:
C3280127
Disease or Syndrome
6.

X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016). [from OMIM]

MedGen UID:
336844
Concept ID:
C1845050
Disease or Syndrome
7.

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

RERE-related disorders are characterized by neurodevelopmental problems with or without structural anomalies of the eyes, heart, kidneys, and genitourinary tract and mild sensorineural hearing loss. Hypotonia and feeding problems are common among affected individuals. Developmental delay and intellectual disability range from mild to profound. Behavior problems may include attention-deficit/hyperactivity disorder, self-injurious behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's anomaly) and vision issues (myopia, anisometropia, astigmatism, exotropia, esotropia) have been reported. Congenital heart defects, most commonly septal defects, have also been described. Genitourinary abnormalities include vesicoureteral reflux, and cryptorchidism and hypospadias in males. Sensorineural hearing loss can be unilateral or bilateral. [from GeneReviews]

MedGen UID:
934739
Concept ID:
C4310772
Disease or Syndrome
8.

ZTTK syndrome

ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016). [from OMIM]

MedGen UID:
934663
Concept ID:
C4310696
Disease or Syndrome
9.

Noonan syndrome 13

Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population. [from GeneReviews]

MedGen UID:
1761918
Concept ID:
C5436773
Disease or Syndrome
10.

Anauxetic dysplasia 3

Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095). [from OMIM]

MedGen UID:
1718444
Concept ID:
C5394289
Disease or Syndrome
11.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and impaired intellectual development, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017). [from OMIM]

MedGen UID:
1627464
Concept ID:
C4540327
Disease or Syndrome
12.

Pilarowski-Bjornsson syndrome

Pilarowski-Bjornsson syndrome (PILBOS) is an autosomal dominant neurodevelopmental disorder characterized by delayed development, impaired intellectual development, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018). [from OMIM]

MedGen UID:
1619150
Concept ID:
C4540131
Disease or Syndrome
13.

Intellectual developmental disorder, autosomal recessive 68

MedGen UID:
1648490
Concept ID:
C4749033
Disease or Syndrome
14.

Chromosome 1p36 deletion syndrome, proximal

Proximal 1p36 deletion syndrome is a multisystem developmental disorder characterized by global developmental delay with impaired intellectual development, poor overall growth with microcephaly, axial hypotonia, and dysmorphic facial features. Most patients have congenital cardiac malformations or cardiac dysfunction. Additional more variable features may include distal skeletal anomalies, seizures, and cleft palate. The phenotype shows some overlap with distal chromosome 1p36 deletion syndrome (summary by Kang et al., 2007). [from OMIM]

MedGen UID:
1794324
Concept ID:
C5562114
Disease or Syndrome
15.

Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism

Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021). [from OMIM]

MedGen UID:
1786662
Concept ID:
C5543228
Disease or Syndrome
16.

Ramos-Arroyo syndrome

An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. [from SNOMEDCT_US]

MedGen UID:
418932
Concept ID:
C2930866
Disease or Syndrome
17.

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022). [from OMIM]

MedGen UID:
1824024
Concept ID:
C5774251
Disease or Syndrome
18.

Developmental delay, impaired speech, and behavioral abnormalities

Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021). [from OMIM]

MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
19.

Faundes-Banka syndrome

Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021). [from OMIM]

MedGen UID:
1782083
Concept ID:
C5543554
Disease or Syndrome
20.

Broad eyebrow

Regional increase in the width (height) of the eyebrow. [from HPO]

MedGen UID:
344657
Concept ID:
C1856121
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