Medfødt mangel av fingre - unntatt tommel (dysmeli)
Også kjent som: Dysmeli
Engelsk navn: Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Engelske synonym: Adactyly of hand, unilateral,Digits 2-5 hypodactyly, unilateral,Digits 2-5 oligodactyly, unilateral
Definisjon
Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
Fra Orphanet
ORPHA: 973
Klassifiseringsnivå: Disorder
ICD-10: Q71.3