Cyclopia, also known as alobar holoprosencephaly, occurs in about (including stillbirths). A form of the disease also exists in animals. There’s no way to prevent the condition and there’s currently no cure.
What is holoprosencephaly and how is it treated?
Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face.
What is the least severe form of holoprosencephaly?
Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby’s brain may be nearly normal.
How does holoprosencephaly affect the brain?
In other children, holoprosencephaly is due to a change in a specific gene. These changes cause the genes and their proteins to function abnormally, and this affects the development of the brain, resulting in holoprosencephaly.
What is the life expectancy of a child with holoprosencephaly?
Approximately 50% of children with alobar holoprosencephaly die before age four to five months and 20% live past the first year of life 35). More than 50% of children with isolated semilobar or lobar holoprosencephaly without significant malformations of other organs are alive at age 12 months 36).
Can you survive holoprosencephaly?
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.
What treatment is there for holoprosencephaly?
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.
How is holoprosencephaly inherited?
Inheritance. 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.
Do babies with HPE survive?
HPE affects about one in 5,000 live births. Most children with HPE have the severe form of the disorder. Therefore, the majority do not survive past the first six months of life.
How does a baby get holoprosencephaly?
It's a very rare form of hydrocephalus, and affected babies usually have an enlarged head. Holoprosencephaly happens when your baby's brain doesn't properly separate into the right and left hemispheres during fetal development.
What causes holoprosencephaly in pregnancy?
Causes. Holoprosencephaly is a birth defect that arises during the first few weeks of the pregnancy. Diabetes in the mother during the pregnancy can increase the risk of holoprosencephaly in the fetus.
How early can holoprosencephaly be detected?
Ultrasound done at 18-20 weeks gestation is the ideal modality for screening for holoprosencephaly [6, 7], though the earliest detection of the alobar variety of holoprosencephaly has been reported at 10-12 weeks using the transvaginal ultrasonography (TVS).
Who discovered holoprosencephaly?
In 1959, Yakolev, a neuropathologist, called the disease holotelencaphaly, incorporating the fact that the brain fails to divide into 2 separate halves. In 1963, the pediatric neuropathologist, DeMyer, coined the term holoprosencephaly to describe the fact that the entire brain is involved.
What is the survival rate of holoprosencephaly?
The prognosis of HPE is very poor and depends on the degree and type of HPE and the extent of facial dysmorphic features. Only 50% of patients with alobar HPE will survive by 4-5 months of age. Only 20% of these cases will survive by 12 months of age.
What is the most severe form of holoprosencephaly?
Alobar holoprosencephaly is the most severe form, with no separation of the cerebral hemispheres; it is characterized by a single ventricle, absence of the corpus callosum and interhemispheric fissure, and fused thalami.
Whats IT called when a baby is born without a brain?
Anencephaly (pronounced an-en-sef-uh-lee) is a serious birth defect in which a baby is born without parts of the brain and skull.
How early can holoprosencephaly be detected?
Ultrasound done at 18-20 weeks gestation is the ideal modality for screening for holoprosencephaly [6, 7], though the earliest detection of the alobar variety of holoprosencephaly has been reported at 10-12 weeks using the transvaginal ultrasonography (TVS).
Is Alobar holoprosencephaly fatal?
Alobar holoprosencephaly is a disorder with fatal outcome. Timely antenatal diagnosis by ultrasound can allow medical termination of pregnancy and avoid the mental trauma to the parents.
What is holoprosencephaly condition?
Holoprosencephaly is a brain malformation where the forebrain does not completely seperate into two different hemispheres. In more severe cases the brain does not seperate at all. Once known as arhinencephaly, HPE is a neural tube defect that occurs sometime between the forth and sixth week of gestation.
What gene is mutated in holoprosencephaly?
SHH is the major gene implicated in holoprosencephaly (12.7% of HPE cases: 50% of overall point mutations and 38% of overall large deletions) [50, 51].
Parts of the human fetal brain and their functions
During fetal development the brain can be divided into five continuous parts (see Figure 1). From top to bottom they are :
Holoprosencephaly signs and symptoms
Holoprosencephaly is a malformation sequence with a very variable degree of severity for both the brain and facial abnormalities. Intellectual disability is associated with HPE and seizures are often present.
Holoprosencephaly prognosis
The prognosis for individuals with holoprosencephaly depends on the severity of the brain and facial deformities, the presence of chromosomal abnormalities, the involvement of other organs, and the presence of a multiple anomaly syndrome.
Holoprosencephaly life expectancy
A common misperception is that children with holoprosencephaly do not survive beyond early infancy. While this is the case for the most severely affected children, a significant proportion of more mildly affected children (as well as some severely affected children) survive past age 12 months.
Holoprosencephaly causes
Holoprosencephaly is a birth defect that arises during the first few weeks of the pregnancy. Diabetes in the mother during the pregnancy can increase the risk of holoprosencephaly in the fetus by 200 fold 38).
Holoprosencephaly diagnosis and testing
Imaging of the brain by CT scan or (preferably) MRI confirms the diagnosis of holoprosencephaly, may define the anatomic subtype, and identifies associated CNS anomalies 45). Holoprosencephaly is most frequently diagnosed during the newborn period when abnormal facial findings and/or neurologic presentation prompt further evaluation.
Holoprosencephaly treatment
Treatment and care for a baby with holoprosencephaly are supportive and based on the specific medical issues present for an individual child.
4 subtypes of holoprosencephaly
One of the most severe forms where the brain is not divided into right and left hemispheres and remains as one.
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