Holoprosencephaly
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Holoprosencephaly Overview

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What is the definition of Holoprosencephaly?
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. There are 4 types of Holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is only partially divided, and the eyes usually are set close together. Other signs and symptoms often include intellectual disability and pituitary gland problems. 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 alternative names for Holoprosencephaly?
  • Holoprosencephaly
  • HPE
Who are the top Holoprosencephaly Local Doctors?
Elite in Holoprosencephaly
Dr. Maximilian Muenke
Medical Genetics
Elite in Holoprosencephaly
Dr. Maximilian Muenke
Medical Genetics
5131 Dudley Ln, 
Bethesda, MD 
301-273-5250
Languages Spoken:
English

Maximilian Muenke is a Medical Genetics provider practicing medicine in Bethesda, Maryland. Dr. Muenke is rated as an Elite provider by MediFind in the treatment of Holoprosencephaly. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Holoprosencephaly, Turner Syndrome, Corpus Callosum Agenesis, and Chromosome 7q Duplication.

Elite in Holoprosencephaly
Christele Dubourg
Elite in Holoprosencephaly
Christele Dubourg
Rennes, FR 

Christele Dubourg practices practicing medicine in Rennes, France. Dubourg is rated as an Elite expert by MediFind in the treatment of Holoprosencephaly. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Holoprosencephaly, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia.

 
 
 
 
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Elite in Holoprosencephaly
Valerie Dupe
Elite in Holoprosencephaly
Valerie Dupe
Rennes, FR 

Valerie Dupe practices practicing medicine in Rennes, France. Ms. Dupe is rated as an Elite expert by MediFind in the treatment of Holoprosencephaly. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Holoprosencephaly, Achalasia Microcephaly Syndrome, Microcephaly, and Cornelia De Lange Syndrome.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center