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progeria-short stature-pigmented nevi syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progeria-short stature-pigmented nevi syndrome

MONDO:0008311

Also known as:Mulvihill-Smith Syndromeprogeroid short stature with pigmented nevi

Overview

Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

GeneticsAutosomal recessive, Autosomal dominant

ResearchLimited published research (2 articles)

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: Small for gestational age. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Aortic valve stenosis, Bicuspid aortic valve
Eyes

Prognosis

Phenotype severity distribution: 1 always present feature.

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

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 progeria-short stature-pigmented nevi syndrome.

2 publications have been identified in PubMed for progeria-short stature-pigmented nevi syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Riess A (2025). [PMID: 40343591](https://pubmed.ncbi.nlm.nih.gov/40343591/). *Functional & integrative genomics*. [Case Report / Case Series]
Tavdy T (2024). [PMID: 38799049](https://pubmed.ncbi.nlm.nih.gov/38799049/). *AACE clinical case reports*. [Case Report / Case Series]

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:176690

Orphanet

European rare disease database

Orphanet:2959

GARD

Genetic and Rare Diseases Info Center

GARD:4494

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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progeria-short stature-pigmented nevi syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

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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