Tetra-amelia Syndrome
Synonyms
2
Overview
Tetra-Amelia Syndrome is a very rare disorder characterized by the absence of all four limbs.
Symptoms
The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. In many cases, the lungs are underdeveloped, 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.
Causes
In most of the families reported so far, Tetra-Amelia syndrome appears to have an autosomal recessive pattern of inheritance. 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.