Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia is a rare genetic disorder that affects the development of bones and cartilage, and is caused by mutations in the COL11A2 gene. It is characterized by hearing impairment, abnormal bone growth, and joint problems. It is also associated with Stickler syndrome type 3, which is an autosomal dominant form of hearing impairment. OSMED syndrome is inherited in an autosomal recessive manner.From: Fetal and Perinatal Skeletal Dysplasias [2012], Genetic Hearing Loss [2018]

Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

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Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012

Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow

Other disorders caused by mutations in the same gene are achondrogenesis type 2, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, spondylometaepi-physeal dysplasia Strudwick type, platyspondylic dysplasia Torrance type, Stickler syndrome, osteoarthritis with mild chondrodysplasia, spondyloepiphyseal dysplasia Namaqualand type, spondyloepiphyseal dysplasia with precocious osteoarthritis, multiple epiphyseal dysplasia with myopia and conductive deafness, spondyloperipheral dysplasia and some cases of otospondylomegaepiphyseal dysplasia.

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

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Published in Ophthalmic Genetics, 2020

Kirstine B. Boysen, Morten La Cour, Line Kessel

Four subtypes of SS (STL1, STL2, STL4, and STL5) are defined in the database of ‘Online Mendelian Inheritance in Man’ (OMIM#108300; OMIM#604841; OMIM#614134; OMIM#614284). Previously, STL3 was classified as a subtype of SS but has since been reclassified as autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA or Weissenbacher-Zweymuller syndrome. OMIM#184840). STL4 and 5 are rare, both are autosomal recessively inherited and thought to be caused by mutations in COL9A1 (9,12–14). The autosomal dominant types STL1 and STL2 are the most common and have been reported to affect 75–90% and 10–20% of Stickler patients, respectively (2,15,16).

Otospondylomegaepiphyseal dysplasia

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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review