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 femur | 90% |
| Abnormality of the metacarpal bones | 90% |
| Anteverted nares | 90% |
| Brachydactyly syndrome | 90% |
| Cone-shaped epiphysis | 90% |
| Delayed skeletal maturation | 90% |
| Full cheeks | 90% |
| Hypertelorism | 90% |
| Limitation of joint mobility | 90% |
| Long philtrum | 90% |
| Round face | 90% |
| Short nose | 90% |
| Short stature | 90% |
| Short toe | 90% |
| Thin vermilion border | 90% |
| Abnormality of the aortic valve | 50% |
| Abnormality of the tricuspid valve | 50% |
| Abnormality of the voice | 50% |
| Atria septal defect | 50% |
| Blepharophimosis | 50% |
| Hearing impairment | 50% |
| Hepatomegaly | 50% |
| Intrauterine growth retardation | 50% |
| Micromelia | 50% |
| Mitral stenosis | 50% |
| Otitis media | 50% |
| Platyspondyly | 50% |
| Recurrent respiratory infections | 50% |
| Respiratory insufficiency | 50% |
| Round ear | 50% |
| Thickened skin | 50% |
| Abnormality of the larynx | 7.5% |
| Apnea | 7.5% |
| Cognitive impairment | 7.5% |
| Pulmonary hypertension | 7.5% |
| Tracheal stenosis | 7.5% |
| Aortic valve stenosis | - |
| Autosomal recessive inheritance | - |
| Camptodactyly of finger | - |
| Congestive heart failure | - |
| Coxa valga | - |
| High pitched voice | - |
| Hypoplasia of the capital femoral epiphysis | - |
| Irregular capital femoral epiphysis | - |
| Joint stiffness | - |
| J-shaped sella turcica | - |
| Lack of skin elasticity | - |
| Osteopenia | - |
| Pectus excavatum | - |
| Seizures | - |
| Short foot | - |
| Short long bone | - |
| Short metacarpals with rounded proximal ends | - |
| Short palm | - |
| Small nail | - |
| Smooth philtrum | - |
| Thickened helices | - |
| Tricuspid stenosis | - |
| Upslanted palpebral fissure | - |
| Wide mouth | - |
| Wrist flexion contracture | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
