Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
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.
Features include always present findings: Hypermetropia, Short stature, Limited wrist extension, and Reduced forced expiratory volume in one second and others; and common findings: Hypertonia, Blepharophimosis, Retinal fold, and Sideways curvature of the spine (scoliosis) and others. 40 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Keratoconus, Strabismus, Retinal fold |
Muscles | 4 | Decreased muscle mass, Firm muscles, Distal arthrogryposis |
Head and neck | 3 | High palate, Decreased facial expression, Triangular face |
Brain and nerves | 3 | Intellectual disability, Exercise intolerance, Hyporeflexia |
Lungs and breathing | 2 | Exertional dyspnea, Restrictive ventilatory defect |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis) |
Growth and development | 1 | Short stature |
Arms and legs | 1 | Congenital finger flexion contractures |
Pregnancy and birth | 1 | Congenital finger flexion contractures |
Age of onset: at birth.
PIEZO2 function has not been fully characterized.
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome is associated with mutations in the PIEZO2 gene on chromosome 18.
Genetic testing for PIEZO2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 18 always present features, 6 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome.
1 publication has been identified in PubMed for arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome. Research spans Case Report / Case Series (100%).
Battiston GS (2026). [PMID: 41572728](https://pubmed.ncbi.nlm.nih.gov/41572728/). *Am J Med Genet A*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:57 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center