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 form of the vertebral bodies | 90% |
| Abnormality of the cardiac septa | 90% |
| Abnormality of the hip bone | 90% |
| Abnormality of the metacarpal bones | 90% |
| Abnormality of the philtrum | 90% |
| Aplasia/Hypoplasia of the thumb | 90% |
| Aplasia/Hypoplasia of the uvula | 90% |
| Asymmetric growth | 90% |
| Deviation of finger | 90% |
| Hepatomegaly | 90% |
| Hypertelorism | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Melanocytic nevus | 90% |
| Microcephaly | 90% |
| Micromelia | 90% |
| Narrow mouth | 90% |
| Optic atrophy | 90% |
| Patent ductus arteriosus | 90% |
| Premature birth | 90% |
| Prominent metopic ridge | 90% |
| Respiratory insufficiency | 90% |
| Short palm | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Single transverse palmar crease | 90% |
| Upslanted palpebral fissure | 90% |
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.
