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Disease characteristics

Excerpted from the GeneReview: Cohen Syndrome
Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.

Associated genes

Clinical features

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  • Small for gestational age
  • Neutropenia
  • Short stature
  • Gingival overgrowth
  • Tapered fingers
  • Arachnodactyly
  • Neonatal hypotonia
  • Thick corpus callosum
  • High, narrow palate
  • Prominent nasal bridge
  • Delayed puberty
  • Low anterior hairline
  • Intellectual disability
  • Short metatarsal
  • Kyphosis
  • Facial hypotonia
  • Microcephaly
  • Prenatal movement abnormality
  • Finger syndactyly
  • Aplasia/Hypoplasia of the earlobes
  • Intrauterine growth retardation
  • Cognitive impairment
  • Chorioretinal dystrophy
  • Open mouth
  • Narrow palm
  • Thoracic scoliosis
  • Childhood-onset truncal obesity
  • Ventricular septal defect
  • Macrodontia
  • Short philtrum
  • Abnormal retinal pigmentation
  • Downslanted palpebral fissures
  • Micrognathia
  • Single transverse palmar crease
  • Seizure
  • Nystagmus
  • Obesity
  • Strabismus
  • Feeding difficulties in infancy
  • Long toe
  • Convex nasal ridge
  • Cryptorchidism
  • Abnormality of the palate
  • Hypoplasia of the maxilla
  • Preauricular skin tag
  • Sensorineural hearing impairment
  • Abnormality of the eyelashes
  • Visual impairment
  • Chorioretinal abnormality
  • Myopia
  • Thick eyebrow
  • Iris coloboma
  • Optic atrophy
  • Macrodontia of permanent maxillary central incisor
  • Pectus excavatum
  • Growth hormone deficiency
  • Muscular hypotonia
  • Motor delay
  • Cerebellar hypoplasia
  • Joint hypermobility
  • Laryngomalacia
  • Abnormality of the voice
  • Abnormality of the mitral valve
  • Mitral valve prolapse
  • Pes planus
  • Sandal gap
  • Abnormality of neutrophils
  • Leukopenia
  • Neurological speech impairment
  • Coarse hair
  • Genu valgum
  • Lumbar hyperlordosis
  • Cubitus valgus
  • Abnormality of the hip bone
  • Clinodactyly of the 5th finger
  • Aplasia/Hypoplasia affecting the eye
  • Reduced number of teeth
  • Short metacarpal
  • Aplasia/Hypoplasia of the tongue
  • Cheekbone underdevelopment
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