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) |
| Depressed nasal ridge | 90% |
| Displacement of the external urethral meatus | 90% |
| Finger syndactyly | 90% |
| Hypertelorism | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Shawl scrotum | 90% |
| Abnormality of the fontanelles or cranial sutures | 50% |
| Bifid scrotum | 50% |
| Broad forehead | 50% |
| Cleft eyelid | 50% |
| Long philtrum | 50% |
| Preaxial foot polydactyly | 50% |
| Preaxial hand polydactyly | 50% |
| Proptosis | 50% |
| Ptosis | 50% |
| Abnormality of neuronal migration | 7.5% |
| Abnormality of the toenails | 7.5% |
| Encephalocele | 7.5% |
| Glaucoma | 7.5% |
| Sacral dimple | 7.5% |
| Autosomal recessive inheritance | - |
| Brachycephaly | - |
| Broad hallux | - |
| Broad thumb | - |
| Hand polydactyly | - |
| High palate | - |
| Hypospadias | - |
| Low-set ears | - |
| Microcephaly | - |
| Overfolded helix | - |
| Posteriorly rotated ears | - |
| Redundant neck skin | - |
| Short stature | - |
| Syndactyly | - |
| Thickened nuchal skin fold | - |
| Wide anterior fontanel | - |
| Wide nose | - |
| Widow's peak | - |
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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