Tetra-amelia syndrome

Tetra-amelia syndrome (pronunciation: te-tra-a-me-li-a syn-drome) is a rare genetic disorder characterized by the absence of all four limbs. This condition can also cause severe malformations of other parts of the body, including the face, heart, nervous system, skeleton, and genitalia. The syndrome is extremely rare, with few reported cases worldwide.

Etymology

The term "Tetra-amelia" is derived from the Greek words "Tetra", meaning four, and "amelia", meaning absence of a limb. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse of people".

Causes

Tetra-amelia syndrome is caused by mutations in the WNT3 gene. This gene provides instructions for making a protein that is important in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene disrupt the normal formation of these structures, leading to the characteristic features of tetra-amelia syndrome.

Symptoms

The most obvious symptom of tetra-amelia syndrome is the absence of all four limbs. Other symptoms can include:

• Facial abnormalities such as a cleft lip or palate
• Absence or malformation of the nose, eyes, ears, or mouth
• Heart defects
• Lung defects
• Urogenital defects
• Skeletal abnormalities such as scoliosis

Diagnosis

Tetra-amelia syndrome can be diagnosed during pregnancy through an ultrasound, which can reveal the absence of limbs and other abnormalities. After birth, the diagnosis can be confirmed through genetic testing to identify mutations in the WNT3 gene.

Treatment

There is currently no cure for tetra-amelia syndrome. Treatment is supportive and depends on the specific symptoms and severity in each individual. This can include surgeries to correct physical abnormalities, physical therapy, and other supportive treatments.

Related Terms

• Amelia
• Phocomelia
• WNT3 gene
• Genetic disorder
• Mutation

External links

• Medical encyclopedia article on Tetra-amelia syndrome
• Wikipedia's article - Tetra-amelia syndrome

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