Brachydactyly type A4
Brachydactyly type A4 is an autosomal dominant disorder which genetic background remains to be determined. Characteristic is a shortage middle phalanges, nail dysplasia, and duplication of the distal phalange of the thumb. Patients may exhibit a short stature and some other skeletal abnormalities.
Cuevas-Sosa A et al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.[^]
None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome.[^]
Ohzeki T et al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.[^]
Orphanet articleOrphanet ID 93394 [^]
OMIM.ORG articleOmim 112800 [^]
Wikipedia articleWikipedia EN (Brachydactyly) [^]