spondylometaepiphyseal dysplasia, short limb-hand type

Term ID

DOID:0112196

Synonyms

• SMED short limb-abnormal calcification type
• SMED short limb-hand type
• SMED type 2
• SMED, type II
• SMED-SL
• SMED-SL/AC
• spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
• 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. (2)

References

• GARD:10616
• MESH:C564794
• MIM:271665
• ORDO:93358
• UMLS_CUI:C1849011

Ontology

Human Disease   ( DOID:0112196 )