= OROFACIODIGITAL SYNDROME

= heterogeneous group of defects, probably representing varying expressivity, involving face, oral cavity, and digits

Prevalence: 1÷50,000 live births

Etiology: autosomal trisomy of chromosome No. 1 with 47 chromosomes; X-linked dominant

Sex: nuclear chromatin pattern female (lethal in male)

Associated with: renal polycystic disease

• mental retardation; hypertelorism
• cleft lip + tongue, lingual hamartoma; bifid nasal tip
• cleft in palate + jaw bone
• hypoplasia of mandible (micrognathia) + occiput of skull
• hypodontia
• clinodactyly, syndactyly, brachydactyly (metacarpals may be elongated), polysyndactyly, duplication of hallux