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spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

MONDO:0010077

Also known as:SMED short limb-hand typeSMED type 2Smed short limb-abnormal calcification type

Overview

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.

GeneticsAutosomal recessive · DDR2 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short finger, Broad palm, Broad long bones, and Platyspondyly and others; and very common findings: Hypertelorism and Concave nasal ridge. 63 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Short finger, Disproportionate short-limb short stature, Short phalanx of finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DDR2 encodes discoidin domain receptor tyrosine kinase 2 (855 aa). Tyrosine kinase involved in the regulation of tissues remodeling. Highest expression in Cells Cultured fibroblasts (110.2 TPM) and Colon Sigmoid (87.2 TPM).

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is caused by mutations in the DDR2 gene on chromosome 1.

The DDR2 protein participates in Collagen type I, II, III, V, X fibrils pathway.

DDR2 is classified as a druggable target (Clinically Actionable, Druggable Genome, Kinase, Transcription Factor, and Tyrosine Kinase categories) with score 1.6.

Diagnosis

Genetic testing for DDR2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 2 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 2:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271665

Orphanet

European rare disease database

Orphanet:93358

GARD

Genetic and Rare Diseases Info Center

GARD:10616

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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