holoprosencephaly , HPE (skrót)
holoprosencephalia latin

In otocephaly, agnathia may occur alone or together with holoprosencephaly.

In severe cases it can cause cyclopia and holoprosencephaly.

Ethmocephaly is a type of cephalic disorder caused by holoprosencephaly.

Casey, a 5-year-old with holoprosencephaly, a rare disorder in which the fetal brain does not develop normally, cannot walk or talk.

Mutual support for parents and families of children with holoprosencephaly (HPE).

There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor.

Semilobar holoprosencephaly, in which the brain's hemispheres have somewhat divided, is an intermediate form of the disease.

There are three classifications of holoprosencephaly.

If no cause is identified and the fetal chromosomes are normal, the chance to have another pregnancy affected with holoprosencephaly is about 6%.

Inappropriate expression of any of these genes may result in mild to severe forms of holoprosencephaly.

Holoprosencephalic proboscis is found in holoprosencephaly.

TGIF-Mutations and deletions of this gene have been associated with holoprosencephaly.

Genetic counseling and genetic testing, such as amniocentesis, is usually offered during a pregnancy if holoprosencephaly is detected.

Such chromosomal anomalies as trisomy 13 and trisomy 18 have been found in association with holoprosencephaly, or other neural tube defects.

Offers support and education to families of infants and children diagnosed with holoprosencephaly (HPE), a congenital brain malformation.

Cyclopia, one of the most severe defects of holoprosencephaly, results if the pathway inhibitor cyclopamine is consumed by gestating mammals.

Recent work has identified mutations in the HHAT gene that have caused Acrania along with holoprosencephaly and agnathia.

Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.

Mutations in the human sonic hedgehog gene, 'SHH', cause holoprosencephaly type 3 (HPE3) as a result of the loss of the ventral midline.

Rarely (i.e., in about 10 percent of cases), Monosomy 18p may be associated with holoprosencephaly, a condition in which the forebrain (prosencephalon) fails to divide properly during embryonic development.

Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals.

According to the National Institute of Neurological Disorders and Stroke (NINDS), "in most cases of holoprosencephaly, the malformations are so severe that babies die before birth.

On April 10, 2005, The Washington Post ran a story about the couple's struggle with a holoprosencephaly (HPE) pregnancy, and an on-line chat with them about reaction to the story.

Other candidate genes have been located, including the SHH (holoprosencephaly type 3 aka HPE3), TGIF, ZIC2 and SIX3 genes.

Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly.