arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Findings
No curated finding names arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007158), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital finger flexion contracturesHPOHP:0005879
- 3 of 3 reported patients · Congenital onset
- Frequent (30% to 79% of cases)
- Decreased facial expressionHPOHP:0004673
- 6 of 6 reported patients
- Decreased palmar creasesHPOHP:0006184
- 3 of 3 reported patients
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Distal arthrogryposisHPOHP:0005684
- 3 of 3 reported patients · Congenital onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIEZO2HGNC:26270
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
- Also called
- distal arthrogryposis type 5distal arthrogryposis type IIBdistal arthrogryposis with ophthalmoplegiaoculomelic amyoplasia