Conditions / Syndrome
Cohen syndrome
info · Syndrome
A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VP
A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.
Signs and symptoms
- Short stature
- Hypotonia
- Narrow palm
- Thick vermilion border
- Intellectual disability
- Downslanted palpebral fissures
- Microcephaly
- Thick eyebrow
- Joint hypermobility
- Global developmental delay
Also known as: COH1; Hypotonia, obesity, and prominent incisors; Pepper syndrome