Classification and external resources
Autosomal recessive inheritance
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an [1 ] autosomal recessive [2 ] congenital disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α 2 strand of collagen type XI. [1 ] It is a [2 ] collagenopathy, types II and XI disorder.
Characteristics [ edit ]
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 ]
References [ edit ]
External links [ edit ]