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) |
| Webbed neck | Occasional (present in 5%-29% of cases) |
| Ankle clonus | - |
| Anteverted nares | - |
| - | |
| Broad hallux | - |
| - | |
| Downslanted palpebral fissures | - |
| Elbow flexion |
- |
| Epicanthus | - |
| Feeding difficulties | - |
| High forehead | - |
| High palate | - |
| Highly arched eyebrow | - |
| - | |
| Hyperactive deep tendon reflexes | - |
| Inverted nipples | - |
| Joint laxity | - |
| Knee flexion contracture | - |
| Long hallux | - |
| Muscular |
- |
| Prominent nasal bridge | - |
| Proximal placement of thumb | - |
| Short chin | - |
| Short foot | - |
| Short neck | - |
| Short palm | - |
| Sleep disturbance | - |
| - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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