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 | 90% |
| Abnormality of the philtrum | 90% |
| Brachydactyly syndrome | 90% |
| Cognitive impairment | 90% |
| Finger syndactyly | 90% |
| High forehead | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Microcephaly | 90% |
| Short nose | 90% |
| Short palm | 90% |
| Short stature | 90% |
| Abnormality of periauricular region | 50% |
| Cryptorchidism | 50% |
| Delayed skeletal maturation | 50% |
| Intrauterine growth retardation | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Single transverse palmar crease | 50% |
| Clinodactyly of the 5th finger | 7.5% |
| Coarse hair | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Facial cleft | 7.5% |
| Hernia of the abdominal wall | 7.5% |
| Pectus excavatum | 7.5% |
| Premature birth | 7.5% |
| Reduced number of teeth | 7.5% |
| Spina bifida occulta | 7.5% |
| Webbed neck | 7.5% |
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.
