Orpha Number: 1438
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 | Very frequent (present in 80%-99% of cases) |
| Aganglionic megacolon | Very frequent (present in 80%-99% of cases) |
| Cachexia | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Hypocalcemia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Intrauterine growth retardation | Very frequent (present in 80%-99% of cases) |
| Large earlobe | Very frequent (present in 80%-99% of cases) |
| Long philtrum | Very frequent (present in 80%-99% of cases) |
| Low-set ears | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Microphthalmia | Very frequent (present in 80%-99% of cases) |
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Pectus excavatum | Very frequent (present in 80%-99% of cases) |
| Renal hypoplasia/aplasia | Very frequent (present in 80%-99% of cases) |
| Sandal gap | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Short neck | Very frequent (present in 80%-99% of cases) |
| Tapered finger | Very frequent (present in 80%-99% of cases) |
| Thin vermilion border | Very frequent (present in 80%-99% of cases) |
| Wide intermamillary distance | Very frequent (present in 80%-99% of cases) |
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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