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) |
| Anterior scalloping of vertebral bodies | - |
| Anteverted nares | - |
| Autosomal dominant inheritance | - |
| Blepharophimosis | - |
| Brachydactyly syndrome | - |
| Carpal bone hypoplasia | - |
| Coarse facial features | - |
| Cubitus valgus | - |
| Cuboid-shaped vertebral bodies | - |
| Curly eyelashes | - |
| Delayed epiphyseal ossification | - |
| Depressed nasal bridge | - |
| Flexion contracture | - |
| High pitched voice | - |
| Hoarse voice | - |
| Hypoplastic iliac wing | - |
| Long philtrum | - |
| Malar flattening | - |
| Microtia | - |
| Midface retrusion | - |
| Pectus excavatum | - |
| Platyspondyly | - |
| Postnatal growth retardation | - |
| Restrictive ventilatory defect | - |
| Rhizo-meso-acromelic limb shortening | - |
| Round face | - |
| Short foot | - |
| Short long bone | - |
| Short metacarpal | - |
| Short neck | - |
| Short palm | - |
| Short phalanx of finger | - |
| Short toe | - |
| Single interphalangeal crease of fifth finger | - |
| Small epiphyses | - |
| Spondyloepiphyseal dysplasia | - |
| Tapered metacarpals | - |
| Tapered phalanx of finger | - |
| Thick lower lip vermilion | - |
| Thick upper lip vermilion | - |
| Thoracic hypoplasia | - |
| Upslanted palpebral fissure | - |
| Wide mouth | - |
| Wide nasal bridge | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
