type 3 Stickler syndrome

Also Known As:

Stickler syndrome, type 3; Stickler Syndrome, Nonocular Type; Stickler Syndrome, Type III; Stickler syndrome nonocular type

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

1.	Megaepiphyseal dwarfism
2.	Pierre Robin syndrome with fetal chondrodysplasia

Drugs and Important Biological Agents (IBA) related to type 3 Stickler syndrome:

1.	Collagen Type XIIBA 08/01/2015 - "HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller syndrome. " 05/01/2008 - "The combination of skeletal, facial, and auditory features together with the absence of ocular features indicated that they had otospondylomegaepiphyseal dysplasia, also known as Stickler syndrome type III. The diagnosis was confirmed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. "
2.	Collagen Type II (Type II Collagen)IBA 05/01/2008 - "The combination of skeletal, facial, and auditory features together with the absence of ocular features indicated that they had otospondylomegaepiphyseal dysplasia, also known as Stickler syndrome type III. The diagnosis was confirmed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. "