Otospondylomegaepiphyseal dysplasia

MedGen UID:: 1617409
•Concept ID:: C4520892
•: Disease or Syndrome

Synonym:	OSMED Syndrome
SNOMED CT:	Otospondylomegaepiphyseal dysplasia (254060000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008975
OMIM® Phenotypic series:	PS184840
Orphanet:	ORPHA1427

Definition

Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOtospondylomegaepiphyseal dysplasia

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Skeletal dysplasia
        Spondyloepiphyseal dysplasia
        Otospondylomegaepiphyseal dysplasia

Recent clinical studies

Diagnosis

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.

Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M
Genes (Basel) 2020 Dec 17;11(12) doi: 10.3390/genes11121513. PMID: 33348901 Free PMC Article

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
Mol Genet Genomics 2015 Aug;290(4):1327-34. Epub 2015 Jan 30 doi: 10.1007/s00438-015-0995-9. PMID: 25633957 Free PMC Article

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.

Tokgöz-Yılmaz S, Sahlı S, Fitoz S, Sennaroğlu G, Tekin M
Int J Pediatr Otorhinolaryngol 2011 Mar;75(3):433-7. Epub 2011 Jan 3 doi: 10.1016/j.ijporl.2010.12.004. PMID: 21208667 Free PMC Article

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.

Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG
J Rheumatol 2008 May;35(5):920-6. Epub 2008 Mar 15 PMID: 18381781

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Prognosis

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L
Am J Hum Genet 2000 Feb;66(2):368-77. doi: 10.1086/302750. PMID: 10677296 Free PMC Article

See all (3)