What are some symptoms of holoprosencephaly?

What are some symptoms of holoprosencephaly?

Features may include bilateral cleft lip , closely spaced eyes, depressed nose or an almost normal looking face. Middle interhemispheric variant results when the brain is fused in the middle. Signs may include closely spaced eyes, depressed and narrow nose or an almost normal looking face.

How early can HPE be detected?

HPE is often diagnosed with an ultrasound during pregnancy. However, milder forms may not be noticed until a baby is born. If the baby shows developmental delays, an MRI, or magnetic resonance imaging, of the brain can be used.

Is there a cure for HPE?

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.

Has anyone with holoprosencephaly cyclopia lived?

A live birth of a baby with cyclopia in Jordan was the subject of a case report presented in 2015. The baby died at the hospital five hours after birth. Other studies of live births have found that a newborn with cyclopia usually has only hours to live.

How is holoprosencephaly inherited?

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.

What causes HPE disease?

The most common known cause of HPE in humans is maternal type 2 diabetes mellitus. In pregnancies of diabetic mothers, the chance for HPE to occur is about 1%. Approximately 25%-50% of individuals with HPE have a chromosome error as the underlying cause of their HPE.

What genetic mutation causes 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.

Is HPE detectable?

Sometimes HPE can be diagnosed during pregnancy with ultrasound, but more mild versions of HPE may not be detected. Talk with your doctor and a genetic counselor about whether molecular testing is right for you and how it might be helpful, especially if you plan to have subsequent children.

How long do babies with HPE live?

Developmental delay is present in the majority of individuals with the HPE spectrum. Severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months and many live into adulthood.

How is HPE inherited?

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.

What are the signs and symptoms of holoprosencephaly?

Other signs and symptoms often include intellectual disability and pituitary gland problems. Holoprosencephaly can be caused by mutations 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.

What is holoprosencephaly?

Holoprosencephaly (HPE) is a rare birth defect. Early in pregnancy, a baby’s brain ordinarily separates into two sections. This does not happen completely in children with HPE.

What is families for Hope?

Families for HoPE, Inc. is a 501(c)(3) nonprofit organization formed to address the needs of families and children diagnosed with holoprosencephaly (HPE) and related brain malformations. Families for HoPE seeks to provide support for all stages in the HPE journey: 

What are the symptoms of HPE in children?

The cause of HPE is unknown but may include genetic disorders.  Children with HPE can experience developmental delays, seizures, respiratory problems, and difficulty maintaining a normal temperature.  The abilities of, and challenges for, a child diagnosed with HPE depends on the type of HPE.