Holoprosencephaly

Introduction: Holoprosencephaly

Holoprosencephaly: Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the forebrain of the embryo) to divide to form bilateral ... more about Holoprosencephaly.

Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects. More detailed information about the symptoms, causes, and treatments of Holoprosencephaly is available below.

Symptoms of Holoprosencephaly

• Spontaneous intrauterine death
• Severe facial defects
  • Cyclopia
  • Ethmocephaly
  • Cebocephaly

See full list of 20 symptoms of Holoprosencephaly

Wrongly Diagnosed with Holoprosencephaly?

• Misdiagnosis of Holoprosencephaly
• Underlying causes of Holoprosencephaly (possibly wrongly diagnosed)

Misdiagnosis and Holoprosencephaly

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Read more about Misdiagnosis and Holoprosencephaly

Causes of Holoprosencephaly

• Steinfeld syndrome
• Smith-Lemli-Opitz syndrome
• Kallmann syndrome
• Pallister-Hall syndrome
• Rubinstein-Taybi syndrome

See full list of 6 causes of Holoprosencephaly

Read more about causes of Holoprosencephaly.

More information about causes of Holoprosencephaly:

• Holoprosencephaly as a symptom

Treatments for Holoprosencephaly

• Symptomatic and supportive

Read more about treatments for Holoprosencephaly

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Patient Surveys for Holoprosencephaly

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Prognosis for Holoprosencephaly

Prognosis for Holoprosencephaly: The prognosis for individuals with the disorder is poor. Most of those who survive show no significant developmental gains. (Source: excerpt from NINDS Holoprosencephaly Information Page: NINDS)

More about prognosis of Holoprosencephaly

Reseach about Holoprosencephaly

Visit our research pages for current research about Holoprosencephaly treatments.

Clinical Trials for Holoprosencephaly

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Holoprosencephaly include:

• Clinical and Genetic Studies on Holoprosencephaly - This study is currently recruiting patients (Current: 23 Nov 2006)
• Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly - This study has been completed (Current: 23 Nov 2006)
• Genetic Analysis of Left-Right Axis Formations - This study is currently recruiting patients (Current: 23 Nov 2006)
• Genetic Analysis of Brain Disorders - This study is currently recruiting patients (Current: 23 Nov 2006)

Read more about Clinical Trials for Holoprosencephaly

Statistics for Holoprosencephaly

• Medical statistics for Holoprosencephaly
• Prevalence and incidence statistics for Holoprosencephaly
• Death and Mortality statistics for Holoprosencephaly
• Society statistics for Holoprosencephaly

Types of Holoprosencephaly

• Alobar Holoprosencephaly
• Semilobar Holoprosencephaly
• Lobar Holoprosencephaly

Read more about Types of Holoprosencephaly

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Article Excerpts about Holoprosencephaly

Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the forebrain of the embryo) to divide to form bilateral cerebral hemispheres, causing defects in the development of the face and in brain structure and function. Once called arhinencephaly, the disorder consists of a spectrum of defects or malformations of the brain and face. (Source: excerpt from NINDS Holoprosencephaly Information Page: NINDS)

Definitions of Holoprosencephaly:

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. - (Source - Diseases Database)

Holoprosencephaly is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Holoprosencephaly, or a subtype of Holoprosencephaly, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Holoprosencephaly as a "rare disease".
Source - Orphanet