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split hand-foot malformation 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Uniprot Description 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:0009525:  split hand-foot malformation 3
GARD:0003252: 
MESH:C565437: 
NCIT:C75121: 
Orphanet:1307: 
SCTID:722429003: