Disease

spondylometaepiphyseal dysplasia, short limb-hand type

Definition

A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.

Synonyms

SMED short limb-abnormal calcification type
SMED short limb-hand type

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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