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 | 90% |
| Depressed nasal bridge | 90% |
| Long face | 90% |
| Malar flattening | 90% |
| Short distal phalanx of finger | 90% |
| Tracheal stenosis | 90% |
| Abnormality of the voice | 50% |
| Chondrocalcinosis | 50% |
| Cognitive impairment | 50% |
| Hearing impairment | 50% |
| Otitis media | 50% |
| Pulmonary hypertension | 50% |
| Recurrent respiratory infections | 50% |
| Sinusitis | 50% |
| Sloping forehead | 50% |
| Underdeveloped nasal alae | 50% |
| Ventricular septal defect | 50% |
| Alopecia | 7.5% |
| Aplasia/Hypoplasia of the skin | 7.5% |
| Cutis laxa | 7.5% |
| Optic atrophy | 7.5% |
| Seizures | 7.5% |
| Short stature | 7.5% |
| Autosomal recessive inheritance | - |
| 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 | - |
| Intellectual disability, mild | - |
| Macrotia | - |
| Midface retrusion | - |
| Nasal speech | - |
| Peripheral pulmonary artery stenosis | - |
| Premature fusion of phalangeal epiphyses | - |
| Pulmonary artery hypoplasia | - |
| Pulmonic stenosis | - |
| Recurrent bronchitis | - |
| Recurrent otitis media | - |
| 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.
