Definition of Weissenbacher–Zweymüller syndrome
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α2 strand of collagen type XI. It is a collagenopathy, types II and XI disorder. The condition was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.
Related terms
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic…
Fountain syndrome
Fountain syndrome is an autosomal recessive congenital disorder characterized by…
Myhre syndrome
Myhre syndrome (MS) is an ultrarare genetic disorder caused by dominant gain-of-function…
Keutel syndrome
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by…
Björnstad syndrome
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti…
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK…
Waardenburg syndrome type 2D
Waardenburg syndrome type 2D, a subtype of the Waardenburg syndrome, is a rare…
Mohr–Tranebjærg syndrome
Mohr–Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as…
Noonan syndrome
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial…
Frequently asked questions
What is Weissenbacher–Zweymüller syndrome?
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which…
Sources & credits
- Wikipedia: Weissenbacher–Zweymüller syndrome – CC BY-SA 4.0
- Image by en:User:Cburnett – CC BY-SA 3.0