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 earlobe | Frequent (present in 30%-79% of cases) |
| Abnormality of the columella | Frequent (present in 30%-79% of cases) |
| Aortic dilatation | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Brachycephaly | Frequent (present in 30%-79% of cases) |
| Broad forehead | Frequent (present in 30%-79% of cases) |
| Broad nasal tip | Frequent (present in 30%-79% of cases) |
| Cerebellar hypoplasia | Frequent (present in 30%-79% of cases) |
| Chronic constipation | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Cortical gyral simplification | Frequent (present in 30%-79% of cases) |
| Deeply set eye | Frequent (present in 30%-79% of cases) |
| Delayed speech and language development | Frequent (present in 30%-79% of cases) |
| Dental malocclusion | Frequent (present in 30%-79% of cases) |
| Diastema | Frequent (present in 30%-79% of cases) |
| Dolichocephaly | Frequent (present in 30%-79% of cases) |
| Dysmetria | Frequent (present in 30%-79% of cases) |
| Generalized |
Frequent (present in 30%-79% of cases) |
| High palate | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Long eyelashes | Frequent (present in 30%-79% of cases) |
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Macrocephaly | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Retrognathia | Frequent (present in 30%-79% of cases) |
| Short philtrum | Frequent (present in 30%-79% of cases) |
| Single transverse palmar crease | Frequent (present in 30%-79% of cases) |
| Unsteady gait | Frequent (present in 30%-79% of cases) |
| Ventriculomegaly | Frequent (present in 30%-79% of cases) |
| Aggressive behavior | Occasional (present in 5%-29% of cases) |
| Asymmetric crying face | Occasional (present in 5%-29% of cases) |
| Atrial septal defect | Occasional (present in 5%-29% of cases) |
| Chronic otitis media | Occasional (present in 5%-29% of cases) |
| Cutis marmorata | Occasional (present in 5%-29% of cases) |
| Drooling | Occasional (present in 5%-29% of cases) |
| Esotropia | Occasional (present in 5%-29% of cases) |
| Horizontal eyebrow | Occasional (present in 5%-29% of cases) |
| Hyperactivity | Occasional (present in 5%-29% of cases) |
| Hypertelorism | Occasional (present in 5%-29% of cases) |
| Inguinal hernia | Occasional (present in 5%-29% of cases) |
| Joint hypermobility | Occasional (present in 5%-29% of cases) |
| Patent ductus arteriosus | Occasional (present in 5%-29% of cases) |
| Polyphagia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Short lingual frenulum | Occasional (present in 5%-29% of cases) |
| Sleep disturbance | Occasional (present in 5%-29% of cases) |
| Sparse anterior scalp hair | Occasional (present in 5%-29% of cases) |
| Thin vermilion border | Occasional (present in 5%-29% of cases) |
| Aortic valve stenosis | Very rare (present in 1%-4% of cases) |
| Aplasia/Hypoplasia of the fallopian tube | Very rare (present in 1%-4% of cases) |
| Aplasia/hypoplasia of the uterus | Very rare (present in 1%-4% of cases) |
| Cryptorchidism | Very rare (present in 1%-4% of cases) |
| Exotropia | Very rare (present in 1%-4% of cases) |
| Hearing impairment | Very rare (present in 1%-4% of cases) |
| Hemivertebrae | Very rare (present in 1%-4% of cases) |
| Very rare (present in 1%-4% of cases) |
|
| Hydronephrosis | Very rare (present in 1%-4% of cases) |
| Hypospadias | Very rare (present in 1%-4% of cases) |
| Impaired smooth pursuit | Very rare (present in 1%-4% of cases) |
| Pectus excavatum | Very rare (present in 1%-4% of cases) |
| Pes planus | Very rare (present in 1%-4% of cases) |
| Sacral dimple | Very rare (present in 1%-4% of cases) |
| Tracheomalacia | Very rare (present in 1%-4% of cases) |
| Unilateral renal agenesis | Very rare (present in 1%-4% of cases) |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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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