Medfødt mangel av underarm og hånd (dysmeli)
Engelsk navn: Amelia of upper limb
Definisjon
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.
Fra Orphanet
ORPHA: 294967
Klassifiseringsnivå: Disorder
ICD-10: Q71.0