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Learn About Holoprosencephaly

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
Medical Genetics
Elite in Holoprosencephaly
Medical Genetics
5131 Dudley Ln, 
Bethesda, MD 
Languages Spoken:
English

Maximilian Muenke is a Medical Genetics provider in Bethesda, Maryland. Dr. Muenke is rated as an Elite provider by MediFind in the treatment of Holoprosencephaly. His top areas of expertise are Holoprosencephaly, Turner Syndrome, Micrognathia, and Craniosynostosis.

Elite in Holoprosencephaly
Elite in Holoprosencephaly
Rennes, FR 

Christele Dubourg practices in Rennes, France. Dubourg is rated as an Elite expert by MediFind in the treatment of Holoprosencephaly. Their top areas of expertise are Holoprosencephaly, Achalasia Microcephaly Syndrome, Microcephaly, and KBG Syndrome.

 
 
 
 
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Elite in Holoprosencephaly
Elite in Holoprosencephaly
Rennes, FR 

Valerie Dupe practices in Rennes, France. Ms. Dupe is rated as an Elite expert by MediFind in the treatment of Holoprosencephaly. Her top areas of expertise are 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