The Syndromes

Nager Syndrome, (acrofacial dysostosis) is a rare genetic condition involving physical anomalies.

The facial characteristics include downward slanting palpebral fissures (eyelids), absence or underdeveloped lower jaw, malformed outer and middle ears (from mild to total absence), clefting of hard or soft palates, absence of lower eyelashes, and scalp hair extending on to cheek.

Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb. Other limb anomalies such as limitations of elbow extension may occur. Legs and toes may also be affected. Some internal anomalies exist including stomach or kidney reflux. The severity of the syndrome varies.

There are over 90 members with Nager Syndrome. Its inheritance pattern has not yet been determined, but is believed to be autosomal dominant, which means one parent may carry this dominant gene.

Miller Syndrome, (postaxial acrofacial dysostosis) is an extremely rare genetic condition that involves multiple physical anomalies.

The facial characteristics include downward slanting palpebral fissures (eyelids), cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge.

Limb anomalies include shortened and bowed forearms, incompletely developed ulnar and radius bones, missing or webbed fingers and toes, and abnormal growth of the tibia and fibula bones (lower legs).

Occasional anomalies include heart defects, lung disease from chronic infection, extra nipples, stomach or kidney reflux, undescended testicles in males, dislocated hips, and difficult venous (vein) access.

The severity of this syndrome varies. There are 30 affected individuals of Miller Syndrome in the world.

Its inheritance pattern is believed to be autosomal recessive, which means that each parent is a carrier of this recessive gene.