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) |
| Abnormal hair pattern | Very frequent (present in 80%-99% of cases) |
| Abnormality of the antihelix | Very frequent (present in 80%-99% of cases) |
| Blepharophimosis | Very frequent (present in 80%-99% of cases) |
| Conspicuously happy disposition | Very frequent (present in 80%-99% of cases) |
| Cryptorchidism | Very frequent (present in 80%-99% of cases) |
| Depressed nasal ridge | Very frequent (present in 80%-99% of cases) |
| Highly arched eyebrow | Very frequent (present in 80%-99% of cases) |
| Lack of skin elasticity | 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) |
| Mask-like facies | Very frequent (present in 80%-99% of cases) |
| Skin dimples | Very frequent (present in 80%-99% of cases) |
| Sparse and thin eyebrow | Very frequent (present in 80%-99% of cases) |
| Telecanthus | Very frequent (present in 80%-99% of cases) |
| Underfolded helix | Very frequent (present in 80%-99% of cases) |
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
| Abnormality of the dentition | Frequent (present in 30%-79% of cases) |
| Camptodactyly of finger | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Hypoplasia of the maxilla | Frequent (present in 30%-79% of cases) |
| Limitation of joint mobility | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Sandal gap | Frequent (present in 30%-79% of cases) |
| Short neck | Frequent (present in 30%-79% of cases) |
| Wide intermamillary distance | Frequent (present in 30%-79% of cases) |
| Abnormality of the nares | Occasional (present in 5%-29% of cases) |
| Finger |
Occasional (present in 5%-29% of cases) |
| Sparse eyelashes | Occasional (present in 5%-29% of cases) |
| Submucous cleft hard palate | Occasional (present in 5%-29% of cases) |
| - | |
| Broad neck | - |
| Camptodactyly | - |
| Clinodactyly | - |
| Frontal bossing | - |
| Frontal upsweep of hair | - |
| Happy demeanor | - |
| High palate | - |
| Hypertelorism | - |
| Hypoplastic nipples | - |
| Joint |
- |
| Labial hypoplasia | - |
| Low anterior hairline | - |
| Micropenis | - |
| Narrow forehead | - |
| Narrow mouth | - |
| Posteriorly rotated ears | - |
| Postnatal microcephaly | - |
| Prominent glabella | - |
| Retrognathia | - |
| Short nose | - |
| Short palpebral fissure | - |
| Smooth philtrum | - |
| Sporadic | - |
| Tapered finger | - |
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.
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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