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) |
| Chin dimple | 90% |
| Deeply set eye | 90% |
| Limitation of joint mobility | 90% |
| Ophthalmoparesis | 90% |
| Pectus excavatum | 90% |
| Ptosis | 90% |
| Abnormal electroretinogram | 50% |
| Absent palmar crease | 50% |
| Camptodactyly of finger | 50% |
| Deviation of finger | 50% |
| Hernia of the abdominal wall | 50% |
| Macrotia | 50% |
| Optic atrophy | 50% |
| Talipes | 50% |
| Triangular face | 50% |
| Visual impairment | 50% |
| Hypermetropia | 5% |
| Scoliosis | 5% |
| Abnormality of retinal pigmentation | - |
| Abnormality of the rib cage | - |
| Absent phalangeal crease | - |
| Arachnodactyly | - |
| Astigmatism | - |
| Autosomal dominant inheritance | - |
| Bilateral talipes equinovarus | - |
| Blepharophimosis | - |
| Clinodactyly | - |
| Congenital finger flexion contractures | - |
| Decreased facial expression | - |
| Decreased muscle mass | - |
| Decreased palmar creases | - |
| Distal arthrogryposis | - |
| Duane anomaly | - |
| Epicanthus | - |
| Firm muscles | - |
| High palate | - |
| Keratoconus | - |
| Keratoglobus | - |
| Limited wrist extension | - |
| Ophthalmoplegia | - |
| Protruding ear | - |
| Restrictive ventilatory defect | - |
| Short stature | - |
| Strabismus | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Distal arthrogryposis type 5. If you have a question about any of these diseases, you can contact GARD.
