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spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

MONDO:0012160

Also known as:SMD-CRDSMDCRDspondylometaphyseal dysplasia with cone-rod dystrophy

Overview

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

GeneticsAutosomal recessive · PCYT1A (chr 3)

OnsetCHILDHOOD

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: Flared metaphysis, Short stature, Bowing of the legs, and Spondylometaphyseal dysplasia and others; and very common findings: Reduced visual acuity. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	9	Cloudy or opaque cornea (corneal opacity), Lens subluxation, Strabismus

Genetic Landscape

PCYT1A function has not been fully characterized.

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is caused by mutations in the PCYT1A gene on chromosome 3.

Diagnosis

Genetic testing for PCYT1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 1 very common feature, 7 common features.

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

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 2:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608940

Orphanet

European rare disease database

Orphanet:85167

GARD

Genetic and Rare Diseases Info Center

GARD:10647

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-cone-rod dystrophy syndrome

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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