Isolated split hand-split foot malformation

Orpha code: 2440OMIM code: 606708

Definicja

A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Ectrodactyly
Deformacja "szczypce homara
Ektrodaktylia
Malformacja rozszczep dłoni/stopy
SHFM
SHFM
Split hand foot malformation
Kod ORPHA
2440
Kod OMIM
606708
Kod ICD10
Q74.8
Kod ICD11
-

No additional description.

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