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) |
| Hearing impairment | 90% |
| Short stature | 90% |
| Abnormal form of the vertebral bodies | 50% |
| Cognitive impairment | 50% |
| Hyperlordosis | 50% |
| Lacrimation abnormality | 50% |
| Myopia | 50% |
| Pointed chin | 50% |
| Short neck | 50% |
| Short thorax | 50% |
| Triangular face | 50% |
| Umbilical hernia | 50% |
| Brachydactyly syndrome | 7.5% |
| Frontal bossing | 7.5% |
| Neurological speech impairment | 7.5% |
| Retinal detachment | 7.5% |
| Abnormality of femoral epiphysis | - |
| Autosomal recessive inheritance | - |
| Growth delay | - |
| Inguinal hernia | - |
| Intellectual disability, moderate | - |
| Lacrimal duct stenosis | - |
| Sensorineural hearing impairment | - |
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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