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 fibula | 90% |
| Adactyly | 90% |
| Aplasia/Hypoplasia of the fibula | 90% |
| Aplasia/Hypoplasia of the ulna | 90% |
| Femoral bowing | 90% |
| Hypoplasia of the radius | 90% |
| Radial bowing | 90% |
| Short stature | 90% |
| Talipes | 90% |
| Tarsal synostosis | 90% |
| Aplasia/Hypoplasia of the 5th finger | 75% |
| Aplasia/hypoplasia of the femur | 75% |
| Congenital hip dislocation | 75% |
| Foot oligodactyly | 75% |
| Hypoplastic iliac wing | 75% |
| Hypoplastic pelvis | 75% |
| Patellar aplasia | 75% |
| Abnormal finger flexion creases | 50% |
| Abnormality of the femur | 50% |
| Abnormality of the fingernails | 50% |
| Abnormality of the hip bone | 50% |
| Abnormality of the metacarpal bones | 50% |
| Anonychia | 50% |
| Bowing of the long bones | 50% |
| Clinodactyly of the 5th finger | 50% |
| Hypoplastic toenails | 50% |
| Postaxial hand polydactyly | 50% |
| Sacrococcygeal pilonidal abnormality | 50% |
| Single transverse palmar crease | 50% |
| Symphalangism affecting the phalanges of the hand | 50% |
| Ulnar deviation of finger | 50% |
| Aplasia/Hypoplasia involving the metacarpal bones | 33% |
| Aplasia/Hypoplasia of metatarsal bones | 33% |
| Hand oligodactyly | 33% |
| Talipes equinovarus | 33% |
| Toe syndactyly | 33% |
| Finger syndactyly | 7.5% |
| Low-set, posteriorly rotated ears | 7.5% |
| Macrotia | 7.5% |
| Short distal phalanx of finger | 7.5% |
| Split hand | 7.5% |
| Absent toenail | - |
| Amenorrhea | - |
| Aplasia/Hypoplasia of the phalanges of the hand | - |
| Autosomal recessive inheritance | - |
| Fibular aplasia | - |
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.
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.
