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Condition report · Musculoskeletal

Otospondylomegaepiphyseal Dysplasia (OSMED)

Whole genome sequencing reads the COL11A2 gene for inherited changes that cause OSMED, a rare skeletal condition with severe hearing loss, short limbs with enlarged joints and a characteristic face.

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About this condition

A rare inherited skeletal condition causing severe hearing loss, short limbs with enlarged joints, spine changes and a characteristic face, usually without eye problems. It is caused by changes in the COL11A2 collagen gene.

Otospondylomegaepiphyseal dysplasia, or OSMED, is a rare inherited skeletal condition. Its name refers to the ears, the spine and the ends of the long bones, all of which are affected. People often have severe hearing loss that begins in infancy, along with short limbs with enlarged joints, flattened vertebrae and a flat face with a short nose. Almost all affected infants are born with a cleft palate, and eye problems are not typical.

The condition is caused by changes in the COL11A2 gene, which encodes part of type XI collagen, a structural protein in cartilage and the inner ear. Changes in both copies (recessive) and in one copy (dominant) have both been described. The condition overlaps with Weissenbacher-Zweymüller syndrome and Stickler syndrome type 3, and COL11A2 is also linked to a non-eye form of Stickler syndrome.

Early hearing assessment guides the use of hearing aids where they are needed, and orthopaedic follow-up covers the joints and spine. Joint pain and arthritis that begin early in life are common. Genetic counselling and family testing are tailored to whether the dominant or recessive form is present.

The condition we analyse

Caused by changes in COL11A2, which encodes part of type XI collagen in cartilage and the inner ear. Forms with changes in both copies (recessive) and in one copy (dominant) have been described, and they overlap with Weissenbacher-Zweymuller syndrome and Stickler syndrome type III. Eye problems are not typical, as COL11A2 is linked to non-ocular Stickler syndrome.

Signs and symptoms

Severe, often high-frequency, sensorineural hearing loss, often developing in infancy. Short limbs with enlarged joints, flattened vertebrae, and a flat face with a short nose are typical. Almost all affected infants are born with a cleft palate, and a small lower jaw is common. Joint pain and arthritis that begins early in life are common.

What a diagnosis changes

Early hearing assessment, with hearing aids where needed, and orthopaedic follow-up for joints and spine. Genetic counselling and family testing are tailored to whether the dominant or recessive form is present.

Genes analysed

Also known as

Insley-Astley syndrome; Nance Sweeney chondrodysplasia; OSMED; OSMED syndrome; oto-spondylo-mega-epiphyseal dysplasia; otospondylmegaepiphyseal dysplasia

Includes 2 related subtypes ↓
  • otospondylomegaepiphyseal dysplasia, autosomal dominant
  • otospondylomegaepiphyseal dysplasia, autosomal recessive
MONDO:0008975Orphanet 1427MedGen 1617409Sources: [1][2][3][4]

Why whole genome sequencing

OSMED can be inherited in either a dominant or a recessive way, so the genetic result shapes what relatives are told. Whole genome sequencing reads COL11A2 in the same test.

Dominant and recessive forms need different advice

In the dominant form, each child of an affected parent has a 1 in 2 chance of inheriting the change. In the recessive form, each child of two carriers has a 1 in 4 chance of being affected.

Hearing and joints need early attention

Hearing assessment starts early, because the loss is often severe and begins in infancy, and hearing aids are fitted where needed. Orthopaedic follow-up helps manage the joints and spine, as joint pain and arthritis often begin early in life.

References

  1. Otospondylomegaepiphyseal dysplasia. MedlinePlus Genetics
  2. COL11A2 gene. MedlinePlus Genetics
  3. Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH, 2006. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. American journal of medical genetics. Part A
  4. Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J et al., 2005. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). American journal of medical genetics. Part A

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