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Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Disease Export to PDF
Name:
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Description:
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.
ORPHAcode:
1154
Synonyms:
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
PIEZO2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14