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 quantity | 90% |
| Abnormal nasal morphology | 90% |
| Abnormality of the palate | 90% |
| Blepharophimosis | 90% |
| Camptodactyly of finger | 90% |
| Dolichocephaly | 90% |
| Fine hair | 90% |
| Frontal bossing | 90% |
| Hypertelorism | 90% |
| Laryngomalacia | 90% |
| Narrow forehead | 90% |
| Narrow mouth | 90% |
| Ptosis | 90% |
| Reduced number of teeth | 90% |
| Sacral dimple | 90% |
| Slender long bone | 90% |
| Aplasia/Hypoplasia of the earlobes | 50% |
| Cafe-au-lait spot | 50% |
| Enlarged thorax | 50% |
| Hypohidrosis | 50% |
| Hypoplasia of the ear cartilage | 50% |
| Single transverse palmar crease | 50% |
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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