/arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Rare Disease

MONDO:0007158

Also Known As

arthrogryposis- oculomotor limitation-electroretinal anomalies syndromedistal arthrogryposis type 5distal arthrogryposis type IIBdistal arthrogryposis with ophthalmoplegiaoculomelic amyoplasiaArthogryposis with oculomotor limitation and electroretinal abnormalitiesDA5arthrogryposis ophthalmoplegia retinopathyarthrogryposis with oculomotor limitation and electroretinal abnormalitiesarthrogryposis, distal, type 2Barthrogryposis, distal, type 5arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Definition

Distal arthrogryposis type 5 is 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.