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split hand-foot malformation 1 with sensorineural hearing loss

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0009080:  split hand-foot malformation 1 with sensorineural hearing loss
MESH:C565647: 
Orphanet:71271: 
SCTID:723611008: 
UMLS:C1857344: