Cohen syndrome; Pepper syndrome; cerebral obesity ocular skeletal syndrome

Epidemiology

rare

Genetics

• autosomal recessive
• mutations in gene for Cohen syndrome protein-1 (VPS13B)

Clinical manifestations

• obesity
• hypotonia
• intellectual deficit, mental retardation
• characteristic craniofacial dysmorphism
  • high-arched or wave-shaped eyelids
  • short philtrum
  • thick hair
  • low hairline
• abnormalities of the hands & feet

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• vacuolar protein sorting-associated protein 13B; Cohen syndrome protein 1 (VPS13B, CHS1, COH1, KIAA0532)

Database

• OMIM: https://mirror.omim.org/entry/216550