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spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylometaphyseal dysplasia with corneal dystrophy

MONDO:0030074

Also known as:SMDCD

Overview

GeneticsAutosomal recessive · PLCB3 (chr 11)

OnsetCONGENITAL

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 long bone, Limb undergrowth, Cloudy or opaque cornea (corneal opacity), and Metaphyseal widening and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Short long bone, Squared iliac bones, Beaking of vertebral bodies

Genetic Landscape

PLCB3 function has not been fully characterized.

Spondylometaphyseal dysplasia with corneal dystrophy is associated with mutations in the PLCB3 gene on chromosome 11.

Diagnosis

Genetic testing for PLCB3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 always present features.

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618961

Orphanet

European rare disease database

Orphanet:589435

GARD

Genetic and Rare Diseases Info Center

GARD:18016

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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spondylometaphyseal dysplasia with corneal dystrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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