Limb reduction defect

Overview

A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.

Symptoms

* Microgastria * Intestinal malrotation * Radial hypoplasia * Ulna hypoplasia * Absence of thumbs

Causes

The cause of congenital limb defects is unknown. However, risk factors that may increase the likelihood of a congenital limb defect include the following: * conditions affecting the baby in the uterus during development * exposures by the mother to chemicals or viruses while pregnant * specific medications

Diagnosis

The diagnosis of congenital limb defects is made at birth. The most common congenital limb defects can be classified as follows: * complete absence of the limb * failure of the portion of the limb to separate (commonly seen in fingers or toes) * duplication (commonly seen as extra fingers or toes) * overgrowth, the limb is much larger than the normal limb * undergrowth, the limb is much smaller than the normal limb * congenital constriction band syndrome - early rupture of the amnion (inner membranes that cover the fetus in utero and contains the amnionic fluid) resulting in bands that may become entangled in the extremities of the fetus, causing immobilization, constrictions of the limbs, amputations, and other deformities.