GTR Home > Conditions/Phenotypes > Weissenbacher-Zweymuller syndrome

Summary

Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weissenbacher-Zweymüller syndrome 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 small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of Weissenbacher-Zweymüller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other ... features of Weissenbacher-Zweymüller syndrome. [from GHR] more

Available tests

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Associated genes

Clinical features

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  • Enlarged epiphyses
  • Rhizomelia
  • Coronal cleft vertebrae
  • Proptosis
  • Micrognathia
  • Cleft palate
  • Pierre-Robin sequence
  • Hypertelorism
  • Sensorineural hearing impairment
  • Dumbbell-shaped long bone
  • Global developmental delay
  • Abnormality of pelvic girdle bone morphology
  • Depressed nasal bridge
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