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) |
| Aplasia/Hypoplasia of the corpus callosum | 90% |
| Aplasia/Hypoplasia of the skin | 90% |
| Epibulbar dermoid | 90% |
| Generalized hyperpigmentation | 90% |
| Abnormality of the cardiovascular system | 50% |
| Aganglionic megacolon | 50% |
| Anteverted nares | 50% |
| Blepharophimosis | 50% |
| Brachydactyly syndrome | 50% |
| Epicanthus | 50% |
| Hearing abnormality | 50% |
| Laryngeal atresia | 50% |
| Macrocephaly | 50% |
| Muscular hypotonia | 50% |
| Polyhydramnios | 50% |
| Proptosis | 50% |
| Short nose | 50% |
| Strabismus | 50% |
| Telecanthus | 50% |
| Abnormal facial shape | 7.5% |
| Cleft eyelid | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Arachnoid cyst | 5% |
| Astigmatism | 5% |
| Depressed nasal bridge | 5% |
| Opacification of the corneal stroma | 5% |
| Parietal bossing | 5% |
| Wide nasal bridge | 5% |
| Anisometropia | - |
| Aplasia cutis congenita | - |
| Autosomal dominant inheritance | - |
| Bladder exstrophy | - |
| Coarctation of aorta | - |
| Epidermal nevus | - |
| Growth delay | - |
| Hyperactivity | - |
| Hyperpigmentation of the skin | - |
| Lower limb asymmetry | - |
| Lymphedema | - |
| Phenotypic variability | - |
| Seizures | - |
| Transient ischemic attack | - |
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.
