Aprosencephaly-atelencephaly syndrome
Aprosencephaly-Atelencephaly Syndrome Aprosencephaly-Atelencephaly Syndrome is a rare congenital disorder characterized by the absence or severe underdevelopment of the forebrain, including the cerebral hemispheres. This condition is part of a group of disorders known as holoprosencephaly, which involve the incomplete separation of the forebrain during early embryonic development.
Etiology[edit | edit source]
The exact cause of Aprosencephaly-Atelencephaly Syndrome is not well understood. It is believed to result from genetic mutations or environmental factors that disrupt normal brain development during the first few weeks of gestation. Some cases have been associated with chromosomal abnormalities, such as trisomy 13.
Clinical Features[edit | edit source]
Individuals with Aprosencephaly-Atelencephaly Syndrome typically present with severe neurological impairments. Common features include:
- Absence of the cerebral hemispheres
- Facial abnormalities
- Seizures
- Developmental delays
Diagnosis[edit | edit source]
Diagnosis is usually made through prenatal imaging techniques such as ultrasound or MRI, which can reveal the absence of the forebrain. Genetic testing may also be conducted to identify any underlying chromosomal abnormalities.
Treatment[edit | edit source]
There is no cure for Aprosencephaly-Atelencephaly Syndrome. Treatment is supportive and focuses on managing symptoms and improving quality of life. This may include:
- Seizure management
- Physical therapy
- Nutritional support
Prognosis[edit | edit source]
The prognosis for individuals with Aprosencephaly-Atelencephaly Syndrome is generally poor. Most affected infants do not survive beyond the first few months of life due to the severity of the brain malformations and associated complications.
Research[edit | edit source]
Ongoing research aims to better understand the genetic and environmental factors contributing to this syndrome. Advances in prenatal screening and genetic counseling may improve early detection and management.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Aprosencephaly-atelencephaly syndrome is a rare disease.
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