Weissenbacher-Zweymüller syndrome

Heterozygous OSMED; Heterozygous otospondylomegaepiphyseal dysplasia; Pierre Robin syndrome with fetal chondrodysplasia; WZS

... Weissenbacher-Zweymüller syndrome is an inherited disorder of bone growth. The condition is characterized by skeletal abnormalities that improve with age, hearing loss, and distinctive facial features. This condition has mild features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED).

Weissenbacher-Zweymüller syndrome is a subtype of collagenopathy, types II and XI.

Infants born with this condition are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set, protruding eyes; a flat nasal bridge; a small, upturned nose; and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal signs of this condition tend to diminish during childhood, and jaw growth catches up with age. Most adults with Weissenbacher-Zweymüller syndrome are not unusually short. ...