Orpha Number: 1154
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Deeply set eye | Very frequent (present in 80%-99% of cases) |
| Dimple chin | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Ophthalmoplegia | Very frequent (present in 80%-99% of cases) |
| Pectus excavatum | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Abnormal electroretinogram | Frequent (present in 30%-79% of cases) |
| Absent palmar crease | Frequent (present in 30%-79% of cases) |
| Arachnodactyly | Frequent (present in 30%-79% of cases) |
| Bilateral talipes equinovarus | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Deviation of finger | Frequent (present in 30%-79% of cases) |
| Inguinal hernia | Frequent (present in 30%-79% of cases) |
| Macrotia | Frequent (present in 30%-79% of cases) |
| Optic atrophy | Frequent (present in 30%-79% of cases) |
| Triangular face | Frequent (present in 30%-79% of cases) |
| Visual impairment | Frequent (present in 30%-79% of cases) |
| Hypermetropia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Abnormality of retinal pigmentation | - |
| Abnormality of the rib cage | - |
| Absent phalangeal crease | - |
| Astigmatism | - |
| - | |
| Blepharophimosis | - |
| Clinodactyly | - |
| Decreased facial expression | - |
| Decreased muscle mass | - |
| Decreased palmar creases | - |
| Distal arthrogryposis | - |
| Duane anomaly | - |
| Epicanthus | - |
| Firm muscles | - |
| High palate | - |
| Keratoconus | - |
| Keratoglobus | - |
| Limited wrist extension | - |
| Protruding ear | - |
| Restrictive ventilatory defect | - |
| - |
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The following diseases are related to Distal arthrogryposis type 5. If you have a question about any of these diseases, you can contact GARD.
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