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

Name and Aliases of Holoprosencephaly

Main name of condition: Holoprosencephaly

arhinencephaly, alobar holoprosencephaly, arhinenecephaly, familial alobar holoprosencephaly, HS, holoprosencephaly malformation complex, holoprosencephaly sequence, lobar holoprosencephaly, semilobar holoprosencephaly, HPE

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

Types of Holoprosencephaly:

Subtypes of Holoprosencephaly: Alobar Holoprosencephaly, Semilobar Holoprosencephaly, Lobar Holoprosencephaly
Parent types of Holoprosencephaly: Congenital conditions, Brain conditions

Organs Affected by Holoprosencephaly:

brain, face

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?

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)
Complications of Holoprosencephaly: see complications of Holoprosencephaly

What causes Holoprosencephaly?

Class of Condition for Holoprosencephaly: congen.defect
Causes of Holoprosencephaly: see causes of Holoprosencephaly

How is it treated?

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