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 mandible | 90% |
| Abnormality of the palate | 90% |
| Cognitive impairment | 90% |
| Postaxial hand polydactyly | 90% |
| Seizures | 90% |
| Aplasia/Hypoplasia of the earlobes | 50% |
| Asymmetric growth | 50% |
| Camptodactyly of finger | 50% |
| Clinodactyly of the 5th finger | 50% |
| Dental malocclusion | 50% |
| Finger syndactyly | 50% |
| Postaxial foot polydactyly | 50% |
| Short toe | 50% |
| Thick eyebrow | 50% |
| Intrauterine growth retardation | 7.5% |
| Scoliosis | 7.5% |
| Short philtrum | 7.5% |
| Supernumerary nipple | 7.5% |
| Symphalangism affecting the phalanges of the hand | 7.5% |
| Autosomal recessive inheritance | - |
| Intellectual disability | - |
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.
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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