Otopalatodigital Syndrome

Otopalatodigital syndrome, also known as OPD syndrome, cranioorodigital syndrome, faciopalatoosseus syndrome, or Tarybi syndrome, is a congenital condition mainly characterized by bone and cartilage abnormalities.

This spectrum disorder is caused by gene mutations on the X chromosome; it has type I and type II. The affected females have fewer symptoms.

The symptoms of OPD type I include broad and short thumbs and toes, bent fingers, wide spaces in between the toes, short fingernails, united fingers or toes, broad nose bridge, and slow speech development. Females with this condition generally present with a flat midface, overhanging brows, and wide space between the eyes.

The symptoms of OPD type II are more severe; these include heart defects, small chest, deformation of the forearms and legs, short digits, bent and overlapping fingers, and intellectual disability. Facial characteristics include small head, broad forehead, flat nose bridge, a downward slant of the opening between the eyelids, small mouth and jaw, and cleft palate. Other symptoms may include clouded eyes, brain malformation, and a split tongue tip. Unfortunately, such symptoms often lead to early infant death (or stillbirth) among males. Affected females often only present with the facial characteristics.