Distal arthrogrypose type 8
Engelsk navn: Autosomal dominant multiple pterygium syndrome
Engelske synonym: Distal arthrogryposis type 8
Definisjon
A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
Fra Orphanet
ORPHA: 65743
Klassifiseringsnivå: Disorder
ICD-10: Q79.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
