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) |
| Duplication of phalanx of hallux | 5% |
| Highly arched eyebrow | 5% |
| Microphthalmia | 5% |
| Oral cleft | 5% |
| Retrognathia | 5% |
| Ventriculomegaly | 5% |
| Abnormality of metabolism/homeostasis | - |
| Agenesis of corpus callosum | - |
| Anteverted nares | - |
| Aortic valve stenosis | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Bicuspid aortic valve | - |
| Chorioretinal coloboma | - |
| Cryptorchidism | - |
| Hypertelorism | - |
| Intellectual disability | - |
| Iris coloboma | - |
| Lissencephaly | - |
| Long palpebral fissure | - |
| Long philtrum | - |
| Low posterior hairline | - |
| Low-set ears | - |
| Microcephaly | - |
| Micropenis | - |
| Muscular hypotonia | - |
| Overfolded helix | - |
| Pachygyria | - |
| Patent ductus arteriosus | - |
| Pointed chin | - |
| Postnatal growth retardation | - |
| Prominent epicanthal folds | - |
| Ptosis | - |
| Seizures | - |
| Sensorineural hearing impairment | - |
| Short neck | - |
| Short nose | - |
| Short stature | - |
| Trigonocephaly | - |
| Wide mouth | - |
| Wide nasal bridge | - |
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.
