isolert spaltehånd- og fot malformasjon (dysmeli)

Også kjent som: Dysmeli
Engelsk navn: Isolated split hand-split foot malformation
Engelske synonym: Ectrodactyly,SHFM,Split hand foot malformation


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.

Fra Orphanet

ORPHA: 2440
Klassifiseringsnivå: Disorder
ICD-10: Q74.8

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