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 the antihelix | 90% |
| Abnormality of the nipple | 90% |
| Abnormality of the nose | 90% |
| Aganglionic megacolon | 90% |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Cognitive impairment | 90% |
| Decreased body weight | 90% |
| Frontal bossing | 90% |
| Hypertelorism | 90% |
| Hypocalcemia | 90% |
| Intrauterine growth retardation | 90% |
| Large earlobe | 90% |
| Long philtrum | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Muscular hypotonia | 90% |
| Pectus excavatum | 90% |
| Renal hypoplasia/aplasia | 90% |
| Sandal gap | 90% |
| Seizures | 90% |
| Short neck | 90% |
| Tapered finger | 90% |
| Thin vermilion border | 90% |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
