Distal arthrogrypose type 5
Engelsk navn: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Engelske synonym: Distal arthrogryposis type 5,Distal arthrogryposis type IIB,Distal arthrogryposis with ophthalmoplegia,Oculomelic amyoplasia
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
Informasjon
TRS kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 1154
Klassifiseringsnivå: DisorderICD-10: Q68.8
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
