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) |
| Abnormality of the metacarpal bones | 90% |
| Decreased body weight | 90% |
| EMG abnormality | 90% |
| Gait disturbance | 90% |
| Limitation of joint mobility | 90% |
| Proptosis | 90% |
| Proteinuria | 90% |
| Skeletal muscle atrophy | 90% |
| Slender long bone | 90% |
| Triangular face | 90% |
| Camptodactyly of finger | 50% |
| Nephropathy | 50% |
| Abnormality of epiphysis morphology | 7.5% |
| Downturned corners of mouth | 7.5% |
| Polyhydramnios | 7.5% |
| Telecanthus | 7.5% |
| Wide nasal bridge | 7.5% |
| Ankle swelling | - |
| Arthralgia | - |
| Autosomal dominant inheritance | - |
| Carpal osteolysis | - |
| Hypertension | - |
| Hypoplasia of the maxilla | - |
| Metacarpal osteolysis | - |
| Metatarsal osteolysis | - |
| Osteolysis involving tarsal bones | - |
| Osteopenia | - |
| Pes cavus | - |
| Renal insufficiency | - |
| Ulnar deviation of the hand or of fingers of the hand | - |
| Wrist swelling | - |
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
