Orpha Number: 1786
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 palate | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Carious teeth | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Finger |
Very frequent (present in 80%-99% of cases) |
| High forehead | Very frequent (present in 80%-99% of cases) |
| Hypoplasia of the zygomatic bone | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Microretrognathia | Very frequent (present in 80%-99% of cases) |
| Short nose | Very frequent (present in 80%-99% of cases) |
| Short palm | Very frequent (present in 80%-99% of cases) |
| Small hand | Very frequent (present in 80%-99% of cases) |
| Smooth philtrum | Very frequent (present in 80%-99% of cases) |
| Abnormal hair pattern | Frequent (present in 30%-79% of cases) |
| Bilateral single transverse palmar creases | Frequent (present in 30%-79% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Delayed skeletal maturation | Frequent (present in 30%-79% of cases) |
| Feeding difficulties in infancy | Frequent (present in 30%-79% of cases) |
| Intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Preauricular pit | Frequent (present in 30%-79% of cases) |
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| Coarse hair | Occasional (present in 5%-29% of cases) |
| Facial cleft | Occasional (present in 5%-29% of cases) |
| Hypospadias | Occasional (present in 5%-29% of cases) |
| Inguinal hernia | Occasional (present in 5%-29% of cases) |
| Pectus excavatum | Occasional (present in 5%-29% of cases) |
| Premature birth | Occasional (present in 5%-29% of cases) |
| Reduced number of teeth | Occasional (present in 5%-29% of cases) |
| Spina bifida occulta | Occasional (present in 5%-29% of cases) |
| Webbed neck | Occasional (present in 5%-29% of cases) |
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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