oral-facial-digital syndrome

Epidemiology

males

Genetics

• X-linked dominant
• associated with defects in OFD1 gene

Clinical manifestations

• clefts of the jaw & tongue in the area of the lateral incisors & canines
• malformations of the face & skull
• malformation of the hands
  • syndactyly, clinodactyly, brachydactyly & occasionally postaxial polydactyly)
• mental retardation
• polycystic kidney disease
• lethal in males

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/311200