What is holoprosencephaly caused by?

What is holoprosencephaly caused by?

Holoprosencephaly can be caused by genetic changes in any of at least 14 different genes; chromosome abnormalities; or agents that can cause birth defects (teratogens). It may also be a feature of several unique genetic syndromes. In many cases, the exact cause is unknown.

What are the symptoms of holoprosencephaly?

What Are Symptoms of Holoprosencephaly?

  • Small head (microcephaly)
  • Excessive fluid in the brain (hydrocephalus)
  • Intellectual disability.
  • Developmental delays.
  • Facial abnormalities. Closely spaced eyes. Depressed or narrow nasal bridge.
  • Tooth abnormalities (single central incisor)
  • Epilepsy (seizures)
  • Endocrine abnormalities.

How does holoprosencephaly affect the body?

In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose and upper lip. This birth defect occurs soon after conception.

How do you get holoprosencephaly?

The most common chromosomal abnormality associated with HPE is when there are 3 copies of chromosome 13 (trisomy 13), although a number of other chromosomal changes can also cause holoprosencephaly. In other children, holoprosencephaly is due to a change in a specific gene.

Can holoprosencephaly be treated?

There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive. The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.

Is there a cure for holoprosencephaly?

While there is no cure for HPE, treatment is symptomatic and supportive. Some symptoms and conditions caused by HPE are as follows: cyclopia, median cleft lip and palate, seizures, missing front teeth, closley set eyes, small head, multiple hormone deficiencies, feeding difficulties, developmental delays and more.

Is holoprosencephaly hereditary?

Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition.