Weissenbacher-Zweymuller syndrome

inherited disorder of bone growth Epidemiology: 1) very rare 2) only a few families have been reported worldwide Pathology: 1) collagenopathy, collagen type 2 & collagen type 11 2) skeletal abnormalities that improve with age 3) femur & humerus are shaped like dumbbells 4) vertebrae may also be abnormally shaped 5) hearing loss 6) cleft palate Genetics: 1) alteration in one of the two copies of the COL11A2 gene 2) autosomal dominant disorder Clinical manifestations: 1) distinctive facial features a) wide-set, protruding eyes b) flat nasal bridge c) small, upturned nose d) small lower jaw 2) mild features that are similar to those of otospondylomegaepiphyseal dysplasia 3) infants are smaller than average 4) high-tone hearing loss occurs in some cases 5) skeletal signs tend to diminish during childhood a) jaw growth catches up with age b) most adults are not unusually short

General

skeletal dysplasia genetic syndrome (multisystem disorder)

References

Weissenbacher-Zweymuller syndrome http://ghr.nlm.nih.gov/condition=weissenbacherzweymullersyndrome