Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Weissenbacher-Zweymuller syndrome is an autosomal recessive genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the a2 strand of collagen type XI. [1][2]
It is a collagenopathy, types II and XI disorder.
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 Stickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).
It was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.[3][4]
[tubepress mode=’tag’, tagValue=’Weissenbacher-Zweymüller syndrome’]