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Weissenbacher-Zweymüller syndrome is a genetic disorder of bone growth. It 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).
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 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, and jaw growth catches up with age. Most adults with this condition are not unusually short.
This condition is very rare; only a few families with the disorder have been reported worldwide.
Mutations in the COL11A2 gene cause Weissenbacher-Zweymüller syndrome.
The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). At least one mutation in the COL11A2 gene is known to cause Weissenbacher-Zweymüller syndrome. This mutation disrupts the assembly of type XI collagen molecules, resulting in delayed bone development and the other features of this disorder.
Weissenbacher-Zweymüller syndrome is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. Most cases result from new mutations in the COL11A2 gene, and occur in people with no history of the disorder in their family.
'''Weissenbacher-Zweymuller syndrome''' is a genetic disorder, linked to mutations (955 glycine -> glutamic acid) in the ''COL11A2'' gene (located on chromosome position 6p21.3), which codes for the α2 strand of collagen type XI. It causes facial abnormalities, skeletal malformation and occasionally neural tube defects; the skeletal disfigurements resolve to a degree in the course of development. Mutations in different parts of the gene may lead to deafness or Strickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).