What is Holoprosencephaly?

What is Holoprosencephaly?

• Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
• 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

Holoprosencephaly: Introduction

Types of Holoprosencephaly:

Types of Holoprosencephaly:

• Alobar Holoprosencephaly
• Semilobar Holoprosencephaly
• Lobar Holoprosencephaly
• more types...»

Broader types of Holoprosencephaly:

• Congenital conditions
• Brain conditions
• more types...»

How many people get Holoprosencephaly?

Incidence (annual) of Holoprosencephaly: 2.38 per 10,000 births in the UK 2002 for arhinencephaly/holprosencephaly (University of Ulster, 2003)
Incidence Rate of Holoprosencephaly: approx 1 in 285,714 or 0.00% or 951 people in USA [about data]

How serious is Holoprosencephaly?

Complications of Holoprosencephaly: see complications of Holoprosencephaly
Prognosis of 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)

What causes Holoprosencephaly?

Causes of Holoprosencephaly: see causes of Holoprosencephaly

What are the symptoms of Holoprosencephaly?

Symptoms of Holoprosencephaly: see symptoms of Holoprosencephaly

Complications of Holoprosencephaly: see complications of Holoprosencephaly

Holoprosencephaly: Testing

Diagnostic testing: see tests for Holoprosencephaly.

Misdiagnosis: see misdiagnosis and Holoprosencephaly.

How is it treated?

Treatments for Holoprosencephaly: see treatments for Holoprosencephaly
Research for Holoprosencephaly: see research for Holoprosencephaly

Organs Affected by Holoprosencephaly:

Organs and body systems related to Holoprosencephaly include:

• Brain
• Face

Name and Aliases of Holoprosencephaly

Main name of condition: Holoprosencephaly

Class of Condition for Holoprosencephaly: congen.defect

arhinencephaly, HS, holoprosencephaly malformation complex, holoprosencephaly sequence, HPE

HPE
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)