The signs and symptoms of Holoprosencephaly can vary widely from person to person. This is because Holoprosencephaly ranges from mild to severe, and each individual may be affected differently depending on the type of Holoprosencephaly they have.
Classic Holoprosencephaly
Children with classic forms of Holoprosencephaly may experience:
- Developmental delays such as delays in learning, movement or speech
- Intellectual disability ranging in severity
- Small head
- Seizures
- Fluid on the brain (hydrocephalus)
Some children with Holoprosencephaly also have differences in facial development. These can include
- A cleft lip or palate
- A single front tooth
- Small or closely spaced eyes
- Differences in nose shape
Not all children will have these features, and facial differences are less common in children with ZIC2-related Holoprosencephaly.
Middle interhemispheric variant
Children with the middle interhemispheric form of Holoprosencephaly often have milder symptoms. In many cases, the main signs are developmental delays, and there may be few or no obvious physical differences.
ZIC2