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Holoprosencephaly is a type of cephalic disorder. This is a disorder characterized by the failure of the prosencephalon (the forebrain of the embryo) to develop. During normal development the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy, though the condition also occurs in other species (as with Cy, the Cyclops Kitty). Holoprosencephaly is caused by a failure of the embryo's forebrain to divide to form bilateral cerebral hemispheres (the left and right halves of the brain), causing defects in the development of the face and in brain structure and function.

Symptoms


There are three classifications of holoprosencephaly. Alobar holoprosencephaly, the most serious form in which the brain fails to separate, is usually associated with severe facial anomalies. Semilobar holoprosencephaly, in which the brain's hemispheres have a slight tendency to separate, is an intermediate form of the disease. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly, the patient's brain may be nearly normal.

Holoprosencephaly, once called arhinencephaly, consists of a spectrum of defects or malformations of the brain and face. At the most severe end of this spectrum are cases involving serious malformations of the brain, malformations so severe that they are incompatible with life and often cause spontaneous intrauterine death. At the other end of the spectrum are individuals with facial defects - which may affect the eyes, nose, and upper lip - and normal or near-normal brain development. Seizures and mental retardation may occur.

The most severe of the facial defects (or anomalies) is cyclopia, an abnormality characterized by the development of a single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye. The condition is also referred to as cyclocephaly or synophthalmia.

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www.holoprosencephaly.net Educate Yourself
melsmemoirs (Melissa Alexander) Wed, 09 Dec 2009 20:58:53 -0000
www.holoprosencephaly.net Educate Yourself
all i feel like doin these days: sleeping and researching holoprosencephaly online..dont even feel like goin to the gym, for me that's bad
melsmemoirs (Melissa Alexander) Wed, 09 Dec 2009 20:41:35 -0000
all i feel like doin these days: sleeping and researching holoprosencephaly online..dont even feel like goin to the gym, for me that's bad

 
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Agnathia-Holoprosencephaly - Information including images and case report on lethal and rare form of HPE.

Birth Defects Risk Factor Series - Holoprosencephaly - Details of research into the causes and risk factors for holoprosencephaly. Provided by Texas Department of State Health Services.
Meta Description: [ Research into the causes and risk factors for holoprosencephaly. ]

Carter Centers for Brain Research in Holoprosencephaly - Research center into the causes of HPE. Also information and support for families of those affected.
Meta Description: [ Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. ]

Developmental Biology Online: Holoprosencephaly - Includes photographs and diagrams of HPE development.

GeneReviews: Holoprosencephaly Overview - Includes details of prevalence, causes and management.

Holoprosencephaly-hypokinesia syndrome - Case Study of Morse Syndrome.

Holoprosencephaly: Alobar - Case study of first trimester HPE diagnosis. Includes ultrasound images.

500 HPE Quarterly - Newsletter for families living with Holoprosencephaly or related brain malformations.

NINDS: Holoprosencephaly - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Holoprosencephaly information sheet compiled by NINDS. ]

Prenatal Diagnosis of Holoprosencephaly - Includes Ultrasound and MRI images of HPE.

404 Resources for Genetic Counselors - Holoprosencephaly - Fact sheet including causes and risk of recurrence.

West Midlands Congenital Anomaly Register: Holoprosencephaly - Information from conception to the first 2 years of life on the occurrence of suspected and confirmed Holoprosencephaly within this region of the UK.

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