Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis- 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.
Also known as arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, distal arthrogryposis type 5, distal arthrogryposis type IIB, distal arthrogryposis with ophthalmoplegia, oculomelic amyoplasia — per MONDO