Megaepiphyseal dwarfism

Also Known As:

Chondrodystrophy with Sensorineural Deafness; Insley-Astley syndrome; Mega-epiphyseal dwarfism; Nance Sweeney chondrodysplasia; Nance-Insley syndrome; Nance-Sweeney Chondrodysplasia; Oto-Spondylo-Mega-Epiphyseal Dysplasia; Oto-Spondylo-Megaepiphyseal Dysplasia; Otospondylomegaepiphyseal dysplasia

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	type 3 Stickler syndrome
2.	Hearing Loss (Hearing Impairment)
3.	Pierre Robin Syndrome (Syndrome, Pierre Robin)
4.	Osteoarthritis
5.	Cleft Palate (Palate, Cleft)

Experts

1.	Atwal, Herjot: 1 article (06/2020)
2.	Atwal, Paldeep S: 1 article (06/2020)
3.	Jain, Angita: 1 article (06/2020)
4.	Selvam, Pavalan: 1 article (06/2020)
5.	Singh, Shekhar: 1 article (06/2020)
6.	Haga, Nobuhiko: 1 article (01/2018)
7.	Ito, Hideya: 1 article (01/2018)
8.	Oshima, Hirofumi: 1 article (01/2018)
9.	Tanaka, Sakae: 1 article (01/2018)
10.	Tanaka, Takeyuki: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Megaepiphyseal dwarfism:

1.	Collagen Type XIIBA 06/01/2006 - "Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. " 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. " 01/01/2011 - "Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. " 06/01/2020 - "Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. " 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 11/01/2005 - "A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia." 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. "
3.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2006 - "Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene."
4.	CollagenIBA 06/01/2020 - "Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. "

Therapies and Procedures

Hip Replacement Arthroplasty (Total Hip Replacement)

01/01/2018 - "We present the case of a 28-year-old woman with oto-spondylo-megaepiphyseal dysplasia, which is a rare skeletal disorder, who underwent bilateral total hip arthroplasty. "
01/01/2018 - "Total Hip Arthroplasty in a Patient with Oto-Spondylo-Megaepiphyseal Dysplasia Planned by Three-Dimensional Motion Analyses and Full-Scale Three-Dimensional Plaster Model of Bones."