Holoprosencephaly caudal dysgenesis



Type of disease: Rare conditions

Holoprosencephaly caudal dysgenesis also called HPE, is a structural development problem of the brain. In this condition, part of the brain called the forebrain does not separate correctly before birth. Each case of HPE is slightly different depending on how the brain has developed.

Symptoms of HPE include facial irregularities (closely spaced eyes, depressed nasal bridge, cleft palate), developmental delay, seizures, short stature, difficulty feeding, abnormal sleep patterns, and problems with the pituitary gland (an organ found at the base of the brain). Most pregnancies with this condition do not survive to birth, however those with milder forms of the condition can survive to around the age of one.

HPE is believed to have both environmental and genetic causes. The most common environmental causes include maternal diabetes, prenatal maternal alcohol use, and prenatal use certain medications. Problems with the number of chromosomes, the structures in cells that carry genetic information, may also cause HPE. There are also mutations (changes) in a variety of specific genes that have been linked to HPE, including the SHH and ZIC2 genes.

HPE can be diagnosed by a CT or an MRI scab which allows to get a better picture of brain development. In some cases, HPE can also be detected with a chromosome analysis and/or molecular genetic testing to look at the chromosomes and changes in specific genes.

Treatment involves a wide range of options, depending on the specific symptoms. Possible treatments include surgical repair of cleft lip palate, hormone replacement therapy for pituitary problems, and medication to reduce seizures.

If you or a family member has been diagnosed with HPE, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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