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spondylometaphyseal dysplasia, pagnamenta type (SMDP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylometaphyseal dysplasia, pagnamenta type

MONDO:0030487

Also known as:SMDP

Overview

GeneticsAutosomal recessive · PRKG2 (chr 4)

ResearchLimited published research (1 article)

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: Rhizomelia, Delayed skeletal maturation, Low muscle tone (hypotonia), and Platyspondyly and others; and common findings: Femoral bowing, Feeding difficulties, Blue sclerae, and Short 5th metacarpal and others.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Femoral bowing, Delayed skeletal maturation, Thoracic kyphosis

Genetic Landscape

PRKG2 function has not been fully characterized.

Spondylometaphyseal dysplasia, pagnamenta type is associated with mutations in the PRKG2 gene on chromosome 4.

Diagnosis

Genetic testing for PRKG2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 10 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spondylometaphyseal dysplasia, pagnamenta type.

1 publication has been identified in PubMed for spondylometaphyseal dysplasia, pagnamenta type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Mäkeläinen S (2025). [PMID: 41296694](https://pubmed.ncbi.nlm.nih.gov/41296694/). *PLoS One*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619638

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, pagnamenta type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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