SACRAL syndrome

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SACRAL Syndrome

SACRAL syndrome (pronounced /ˈsækrəl/), is a rare genetic disorder that affects the sacrum, the lower part of the spine. The term "SACRAL" is an acronym for the main features of the syndrome: severe Arthrogryposis, Cleft palate, Anal anomalies, Renal dysplasia, and Lung hypoplasia.

Etymology

The term "SACRAL" is derived from the Latin word "sacrum", which means "sacred bone". This is because in ancient times, the sacrum was often used in religious rituals. The term "syndrome" comes from the Greek word "syndromē", which means "running together", referring to the group of symptoms that occur together in this condition.

Symptoms

The main features of SACRAL syndrome include:

  • Severe Arthrogryposis: This is a condition that causes joint stiffness and muscle weakness. It is often present at birth and can affect any part of the body.
  • Cleft Palate: This is a condition where the roof of the mouth contains an opening into the nose. It is a birth defect that occurs when the tissue that makes up the roof of the mouth does not join together completely during pregnancy.
  • Anal Anomalies: These are abnormalities in the formation of the anus or rectum. They can range from mild to severe and can cause problems with bowel movements.
  • Renal Dysplasia: This is a condition where the kidneys do not develop normally. It can lead to kidney failure and other health problems.
  • Lung Hypoplasia: This is a condition where the lungs do not develop fully. It can cause breathing difficulties and other respiratory problems.

Treatment

Treatment for SACRAL syndrome is usually supportive and depends on the specific symptoms present. This may include physical therapy for arthrogryposis, surgery for cleft palate and anal anomalies, and dialysis or kidney transplant for renal dysplasia. Lung hypoplasia may require respiratory support.

External links

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