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) |
| Calcification of cartilage | Very frequent (present in 80%-99% of cases) |
| Long face | Very frequent (present in 80%-99% of cases) |
| Midface retrusion | Very frequent (present in 80%-99% of cases) |
| Pulmonary artery stenosis | Very frequent (present in 80%-99% of cases) |
| Short distal phalanx of finger | Very frequent (present in 80%-99% of cases) |
| Tracheal atresia | Very frequent (present in 80%-99% of cases) |
| Wide nose | Very frequent (present in 80%-99% of cases) |
| Hearing impairment | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Pulmonary arterial |
Frequent (present in 30%-79% of cases) |
| Recurrent otitis media | Frequent (present in 30%-79% of cases) |
| Recurrent sinusitis | Frequent (present in 30%-79% of cases) |
| Sloping forehead | Frequent (present in 30%-79% of cases) |
| Underdeveloped nasal alae | Frequent (present in 30%-79% of cases) |
| Ventricular septal defect | Frequent (present in 30%-79% of cases) |
| Alopecia | Occasional (present in 5%-29% of cases) |
| Dermal atrophy | Occasional (present in 5%-29% of cases) |
| Optic atrophy | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Soft, doughy skin | Occasional (present in 5%-29% of cases) |
| - | |
| Calcification of the auricular cartilage | - |
| Cartilaginous ossification of larynx | - |
| Cartilaginous ossification of nose | - |
| Cerebral calcification | - |
| Chronic sinusitis | - |
| Costal cartilage calcification | - |
| Deep philtrum | - |
| Epiphyseal stippling | - |
| Growth abnormality | - |
| Macrotia | - |
| Malar flattening | - |
| Nasal speech | - |
| Peripheral pulmonary artery stenosis | - |
| Premature fusion of phalangeal epiphyses | - |
| Pulmonary artery hypoplasia | - |
| Pulmonic stenosis | - |
| Recurrent bronchitis | - |
| Short hallux | - |
| Short thumb | - |
| Spontaneous abortion | - |
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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