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) |
| Cachexia | Very frequent (present in 80%-99% of cases) |
| Carpal osteolysis | Very frequent (present in 80%-99% of cases) |
| EMG abnormality | Very frequent (present in 80%-99% of cases) |
| Gait disturbance | Very frequent (present in 80%-99% of cases) |
| Limitation of joint mobility | Very frequent (present in 80%-99% of cases) |
| Metacarpal osteolysis | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Slender long bone | Very frequent (present in 80%-99% of cases) |
| Triangular face | Very frequent (present in 80%-99% of cases) |
| Wrist swelling | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Frequent (present in 30%-79% of cases) |
| Nephropathy | Frequent (present in 30%-79% of cases) |
| Abnormality of epiphysis morphology | Occasional (present in 5%-29% of cases) |
| Downturned corners of mouth | Occasional (present in 5%-29% of cases) |
| Polyhydramnios | Occasional (present in 5%-29% of cases) |
| Telecanthus | Occasional (present in 5%-29% of cases) |
| Wide nasal bridge | Occasional (present in 5%-29% of cases) |
| Ankle swelling | - |
| Arthralgia | - |
| - | |
| - | |
| Hypoplasia of the maxilla | - |
| Metatarsal osteolysis | - |
| Osteolysis involving tarsal bones | - |
| Osteopenia | - |
| Pes cavus | - |
| Renal insufficiency | - |
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.
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