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hypertelorism-preauricular sinus-punctual pits-deafness syndrome (HPPD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertelorism-preauricular sinus-punctual pits-deafness syndrome

MONDO:0013614

Also known as:HPPDhypertelorism-preauricular sinus-punctual pits-hearing loss syndromehypertelorism, preauricular sinus, punctal pits, and deafness

Overview

GeneticsAutosomal dominant

Clinical Presentation

Features include sometimes findings: Nasolacrimal duct obstruction and Shawl scrotum. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)

Explore clinical features

Diagnosis

Biomarker and diagnostic research for hypertelorism-preauricular sinus-punctual pits-deafness syndrome has been reported in the published literature.

Prognosis

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 hypertelorism-preauricular sinus-punctual pits-deafness syndrome.

287 publications have been identified in PubMed for hypertelorism-preauricular sinus-punctual pits-deafness syndrome. Kisho has analyzed 167 by research type. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (13%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Research summaries	105	63%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614187

Orphanet

European rare disease database

Orphanet:293958

GARD

Genetic and Rare Diseases Info Center

GARD:17351

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hypertelorism-preauricular sinus-punctual pits-deafness syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications