Learn About Tetra-Amelia Syndrome

What is the definition of Tetra-Amelia Syndrome?

Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.

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What are the causes of Tetra-Amelia Syndrome?

Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.

How prevalent is Tetra-Amelia Syndrome?

Tetra-amelia syndrome has been reported in only a few families worldwide.

Is Tetra-Amelia Syndrome an inherited disorder?

In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Who are the top Tetra-Amelia Syndrome Local Doctors?
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Oroville Hospital

2767 Olive Hwy 
Oroville, CA 95966

Mark Heinrich is an Emergency Medicine specialist and a General Practice doctor in Oroville, California. Dr. Heinrich has been practicing medicine for over 36 years and is rated as an Advanced doctor by MediFind in the treatment of Tetra-Amelia Syndrome. He is also highly rated in 184 other conditions, according to our data. His top areas of expertise are Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Tracheitis. He is licensed to treat patients in California.

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Humboldt Universität Zu Berlin And Berlin Institute Of Health

Campus Virchow Klinikum 
Berlin, BE, DE 

Alexander Schwickert is in Berlin, Germany. Schwickert is rated as an Advanced expert by MediFind in the treatment of Tetra-Amelia Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Tetra-Amelia Syndrome, Placenta Previa, Sirenomelia, and Phocomelia.

 
 
 
 
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Vancouver Coastal Health

Vancouver, BC, CA 

Rosie Earle is in Vancouver, Canada. Earle is rated as an Advanced expert by MediFind in the treatment of Tetra-Amelia Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Tetra-Amelia Syndrome, Sirenomelia, Phocomelia, and Schwannomatosis.

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Who are the sources who wrote this article ?

Published Date:updated Last, February

Published By: National Institutes of Health

What are the Latest Advances for Tetra-Amelia Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.