Amelia (Birth Defect)

Definition

Definition of Amelia (Birth Defect)
Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. For example, a child might be born without an elbow or forearm. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. A related term is meromelia, which is the partial absence of a limb or limbs.

Symptoms

Symptoms of Amelia (Birth Defect)
The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a limited number of families have been studied. Affected infants are often stillborn or die shortly after birth.

Causes

Causes of Amelia (Birth Defect)
The complete absence of an arm or leg in amelia occurs as a result of the limb formation process being either prevented or interrupted very early in the developing embryo: between 24 and 36 days following fertilization. Tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance - that is, 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. In a few cases, amelia may be attributed to health complications during the early stages of pregnancy, including infection, failed abortion or complications associated with removal of an IUD after pregnancy.

Diagnosis

Diagnosis of Amelia (Birth Defect)
Consult with your doctor.

Prognosis

Prognosis of Amelia (Birth Defect)
Consult with your doctor.

Treatment

Treatment of Amelia (Birth Defect)
Consult with your doctor.

Prevention

Prevention of Amelia (Birth Defect)
Consult with your doctor.