Distal arthrogrypose type 5D
Engelsk navn: Distal arthrogryposis type 5D
Engelske synonym: DA5D,Distal arthrogryposis type 5 without ophthalmoparesis,Distal arthrogryposis type 5 without ophthalmoplegia
Definisjon
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
Fra Orphanet
ORPHA: 329457
Klassifiseringsnivå: Disorder
ICD-10: Q68.8
