An unusual form of familial acrocephalosyndactyly.
A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.
D000168:Acrocephalosyndactylia / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree