Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.
The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.
D000505:Alopecia / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D009066:Mouth, Edentulous / Q000235:genetics*; D009896:Optic Atrophy / Q000235:genetics*; D013577:Syndrome; D014078:Tooth Eruption