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Condition report · Musculoskeletal

Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

A rare inherited skeletal dysplasia causing very short stature with short limbs and abnormal calcium deposits, along with abnormalities of the bones of the spine. It is caused by changes in both copies of DDR2, a receptor tyrosine kinase gene.

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The condition we analyse

Autosomal recessive

Caused by biallelic loss-of-function changes in both copies of DDR2, which encodes a discoidin domain receptor tyrosine kinase.

Signs and symptoms

Disproportionate short stature with short limbs and short hands. Calcification of cartilage and other tissues develops progressively, with vertebral and bone-end (epiphyseal) abnormalities. Distinctive facial features are reported, and hydrocephalus and intracranial bleeding have also been described.

What a diagnosis changes

Care is tailored to the features present. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.

Genes analysed

Also known as

Smed short limb-abnormal calcification type; SMED short limb-hand type; SMED type 2; spondyloepimetaphyseal dysplasia - short limb - abnormal calcification; spondylometaepiphyseal dysplasia short limb-abnormal calcification type; spondylometaepiphyseal dysplasia short limb-hand type

MONDO:0010077OMIM 271665Orphanet 93358MedGen 338595Sources: [1][2][3]

References

  1. Akalın A, Özşin C, Koç N, Demir GÜ, Alanay Y, Utine E et al., 2023. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients. European journal of medical genetics
  2. Yilmaz Gulec E, Ali BR, John A, Tuysuz B, 2022. Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features. Molecular syndromology
  3. Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J et al., 2016. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. American journal of medical genetics. Part A

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