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mandibular hypoplasia-deafness-progeroid syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mandibular hypoplasia-deafness-progeroid syndrome

MONDO:0014157

Also known as:MDP syndromemandibular hypoplasia-hearing loss-progeroid syndromeMDPL

Overview

GeneticsAutosomal dominant · POLD1 (chr 19)

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: Bird-like facies, Insulin resistance, Dental crowding, and Lipodystrophy and others; and common findings: Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Diabetes mellitus, and Weak and brittle bones (osteoporosis) and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Weak and brittle bones (osteoporosis), Sideways curvature of the spine (scoliosis), Joint contracture

Genetic Landscape

POLD1 function has not been fully characterized.

Mandibular hypoplasia-deafness-progeroid syndrome is caused by mutations in the POLD1 gene on chromosome 19.

Diagnosis

Genetic testing for POLD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mandibular hypoplasia-deafness-progeroid syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 always present features, 7 common features.

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 mandibular hypoplasia-deafness-progeroid syndrome.

204 publications have been identified in PubMed for mandibular hypoplasia-deafness-progeroid syndrome. Kisho has analyzed 107 by research type. Research spans Review / Meta-Analysis (34%), Basic Science / Preclinical (26%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	36	34%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 7:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615381

Orphanet

European rare disease database

Orphanet:363649

GARD

Genetic and Rare Diseases Info Center

GARD:10989

Questions for Your Care Team

→Should I pursue genetic testing for POLD1, and what would the results mean for my family?
→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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Kisho

mandibular hypoplasia-deafness-progeroid syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

mandibular hypoplasia-deafness-progeroid syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications