Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Orpha code: 1154OMIM code: 108145

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Distal arthrogryposis type 5
Artrogrypoza dystalna typu 5
Artrogrypoza dystalna typu IIB
Artrogrypoza dystalna z oftalmoplagią
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
ORPHA code
1154
OMIM code
108145
ICD10 code
Q68.8
ICD11 code
LD26.4Y

No additional description.

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