Disease - Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive
Definition
A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
Acronym
SHFM1D
Synonyms
Congenital deafness and split hands and feet
Keywords
› Deafness
Disclaimer
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