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) |
| Aganglionic megacolon | 90% |
| Cognitive impairment | 90% |
| Microcephaly | 90% |
| Short stature | 90% |
| Iris coloboma | 50% |
| Muscular hypotonia | 50% |
| Ptosis | 50% |
| Abnormal hair quantity | 7.5% |
| Abnormality of neuronal migration | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Aplasia/Hypoplasia of the eyebrow | 7.5% |
| Cerebral cortical atrophy | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Finger syndactyly | 7.5% |
| Hypertelorism | 7.5% |
| Macrotia | 7.5% |
| Pointed chin | 7.5% |
| Seizures | 7.5% |
| Sloping forehead | 7.5% |
| Ventriculomegaly | 7.5% |
| Wide nasal bridge | 7.5% |
| Autosomal recessive inheritance | - |
| Blue sclerae | - |
| Bulbous nose | - |
| Clinodactyly | - |
| Corneal erosion | - |
| Corneal ulceration | - |
| Everted lower lip vermilion | - |
| Highly arched eyebrow | - |
| Hypoplasia of the brainstem | - |
| Hypoplasia of the corpus callosum | - |
| Hypoplasia of the maxilla | - |
| Intellectual disability | - |
| Low-set ears | - |
| Megalocornea | - |
| Pachygyria | - |
| Polymicrogyria | - |
| Prominent nasal bridge | - |
| Short neck | - |
| Short philtrum | - |
| Small hand | - |
| Sparse hair | - |
| Synophrys | - |
| Tapered finger | - |
| Telecanthus | - |
| Thick eyebrow | - |
| Thick vermilion border | - |
| Wide intermamillary distance | - |
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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