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) |
| Brachydactyly syndrome | 90% |
| Conductive hearing impairment | 90% |
| Limitation of joint mobility | 90% |
| Symphalangism affecting the phalanges of the hand | 90% |
| Abnormality of thumb phalanx | 50% |
| Cone-shaped epiphysis | 50% |
| Single transverse palmar crease | 50% |
| Abnormality of the nail | 7.5% |
| Facial asymmetry | 7.5% |
| 2-3 toe syndactyly | - |
| Abnormality of the vertebrae | - |
| Absent distal interphalangeal creases | - |
| Absent distal phalanges | - |
| Anonychia | - |
| Aplasia/Hypoplasia of the middle phalanges of the hand | - |
| Aplastic/hypoplastic toenail | - |
| Autosomal dominant inheritance | - |
| Carpal synostosis | - |
| Clinodactyly | - |
| Cubitus valgus | - |
| Cutaneous finger syndactyly | - |
| Dislocated radial head | - |
| Enlargement of the costochondral junction | - |
| Fusion of midphalangeal joints | - |
| Hypoplastic nasal septum | - |
| Hypoplastic spinal processes | - |
| Lower limb undergrowth | - |
| Narrow face | - |
| Pectus excavatum | - |
| Progressive conductive hearing impairment | - |
| Proximal symphalangism of hands | - |
| Radial deviation of finger | - |
| Short foot | - |
| Short hallux | - |
| Short humerus | - |
| Short lower limbs | - |
| Short philtrum | - |
| Short sternum | - |
| Spinal canal stenosis | - |
| Stapes ankylosis | - |
| Strabismus | - |
| Tarsal synostosis | - |
| Thick upper lip vermilion | - |
| Underdeveloped nasal alae | - |
| Waddling gait | - |
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.
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