Details of Disease

General Information of Disease (ID: DISEO1T2)

Disease Name Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Synonyms
SMED short limb-hand type; Smed short limb-abnormal calcification type; Smed-SL/Ac; Smed, short limb-abnormal calcification type; spondylometaepiphyseal dysplasia short limb-hand type; spondylometaepiphyseal dysplasia, short limb-abnormal calcification type; Smed, short limb-hand type; Smed-SL; spondylometaepiphyseal dysplasia short limb-abnormal calcification type; spondylometaepiphyseal dysplasia, short limb-hand type; spondyloepimetaphyseal dysplasia - short limb - abnormal calcification; SMED type 2; Smed, type 2
Definition
A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Disease Hierarchy
DISO4L5A: Spondyloepimetaphyseal dysplasia
DISEO1T2: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Disease Identifiers
MONDO ID
MONDO_0010077
MESH ID
C564794
UMLS CUI
C1849011
OMIM ID
271665
MedGen ID
338595
Orphanet ID
93358

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DDR2 TTU98HG Strong Genetic Variation [1]
DDR2 TTU98HG Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DDR2 OT9IHOGZ Definitive Autosomal recessive [2]
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References

1 Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.J Hum Genet. 2018 Sep;63(9):1003-1007. doi: 10.1038/s10038-018-0473-4. Epub 2018 Jun 8.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.