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 | Very frequent (present in 80%-99% of cases) |
| Cleft palate | Very frequent (present in 80%-99% of cases) |
| Intellectual disability | Very frequent (present in 80%-99% of cases) |
| Microcephaly | Very frequent (present in 80%-99% of cases) |
| Specific learning disability | Very frequent (present in 80%-99% of cases) |
| Iris coloboma | Frequent (present in 30%-79% of cases) |
| Muscular hypotonia | Frequent (present in 30%-79% of cases) |
| Ptosis | Frequent (present in 30%-79% of cases) |
| Bifid scrotum | Occasional (present in 5%-29% of cases) |
| Finger syndactyly | Occasional (present in 5%-29% of cases) |
| Hypertelorism | Occasional (present in 5%-29% of cases) |
| Hypoplasia of the corpus callosum | Occasional (present in 5%-29% of cases) |
| Hypospadias | Occasional (present in 5%-29% of cases) |
| Macrotia | Occasional (present in 5%-29% of cases) |
| Pachygyria | Occasional (present in 5%-29% of cases) |
| Pointed chin | Occasional (present in 5%-29% of cases) |
| Seizures | Occasional (present in 5%-29% of cases) |
| Sloping forehead | Occasional (present in 5%-29% of cases) |
| Sparse and thin eyebrow | Occasional (present in 5%-29% of cases) |
| Sparse scalp hair | Occasional (present in 5%-29% of cases) |
| Ventriculomegaly | Occasional (present in 5%-29% of cases) |
| Wide nasal bridge | Occasional (present in 5%-29% of cases) |
| Autosomal recessive inheritance | - |
| Blue sclerae | - |
| Bulbous nose | - |
| Clinodactyly | - |
| Congenital onset | - |
| Corneal erosion | - |
| Corneal ulceration | - |
| Downslanted palpebral fissures | - |
| Everted lower lip vermilion | - |
| Highly arched eyebrow | - |
| Hypoplasia of the brainstem | - |
| Hypoplasia of the maxilla | - |
| Low-set ears | - |
| Megalocornea | - |
| 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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