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 dermatoglyphics | 90% |
| Finger syndactyly | 90% |
| Symphalangism affecting the phalanges of the hand | 90% |
| Brachydactyly syndrome | 50% |
| Macrocephaly | 50% |
| Hearing impairment | 7.5% |
| Kyphosis | 7.5% |
| Tarsal synostosis | 7.5% |
| Absent dorsal skin creases over affected joints | - |
| Autosomal dominant inheritance | - |
| Clinodactyly of the 5th toe | - |
| Cutaneous finger syndactyly | - |
| Proximal symphalangism of hands | - |
| Reduced proximal interphalangeal joint space | - |
| Small hypothenar eminence | - |
| Small thenar eminence | - |
| Toe syndactyly | - |
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.
