Beemer-Langer syndrome

Beemer-Langer syndrome, also known as short rib polydactyly syndrome type 4, is a special form of autosomal recessive congenital hereditary osteochondrodysplasia with a lethal course and belongs to the short-ribbed polydactyly syndromes. The syndrome is characterized by short ribs and an underdeveloped lung.

In addition, usually many other malformations of other internal organs occur. Patients suffer from difficulty in breathing, shortened and often bent long bones, heart defects, brachydactyly, ear malformations, anophthalmos, hydrops fetalis, ambiguous genitalia and ascites.

The syndrome is innate and ends in almost all cases fatally. The cause is still unexplored, but it could be ensured that the present inheritance runs autosomal recessive.