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 pelvic girdle bone morphology | 90% |
| Abnormality of the metaphyses | 90% |
| Abnormality of the ribs | 90% |
| Brachydactyly syndrome | 90% |
| Limb undergrowth | 90% |
| Narrow chest | 90% |
| Respiratory insufficiency | 90% |
| Short thorax | 90% |
| Short toe | 90% |
| Skeletal dysplasia | 90% |
| Abnormal form of the vertebral bodies | 50% |
| Congenital hepatic fibrosis | 50% |
| Depressed nasal bridge | 50% |
| Displacement of the external urethral meatus | 50% |
| Epicanthus | 50% |
| Frontal bossing | 50% |
| Hydrops fetalis | 50% |
| Long philtrum | 50% |
| Macrocephaly | 50% |
| Median cleft lip | 50% |
| Postaxial hand polydactyly | 50% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Cataract | 7.5% |
| Ectopic anus | 7.5% |
| Midline facial cleft | 7.5% |
| Omphalocele | 7.5% |
| Polycystic kidney dysplasia | 7.5% |
| Preaxial hand polydactyly | 7.5% |
| Ventriculomegaly | 7.5% |
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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