Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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Cuevas-Sosa A et al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. 
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None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome.
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Ohzeki T et al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.
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Orphanet article Orphanet ID 93394
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OMIM.ORG article Omim 112800
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Wikipedia article Wikipedia EN (Brachydactyly)
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