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deafness-vitiligo-achalasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-vitiligo-achalasia syndrome

MONDO:0009085

Also known as:congenital deafness with vitiligo and achalasiadeafness vitiligo achalasiadeafness, congenital, with vitiligo and achalasia

Overview

Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.

GeneticsAutosomal recessive

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 very common findings: Inner ear hearing loss (sensorineural hearing impairment), Hypopigmented skin patches, EEG abnormality, and Severe short stature. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Vitiligo, Hypopigmented skin patches

Diagnosis

Biomarker and diagnostic research for deafness-vitiligo-achalasia syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very 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 deafness-vitiligo-achalasia syndrome.

201 publications have been identified in PubMed for deafness-vitiligo-achalasia syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (14%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	106	64%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:221350

Orphanet

European rare disease database

Orphanet:3239

GARD

Genetic and Rare Diseases Info Center

GARD:1705

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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Kisho

deafness-vitiligo-achalasia syndrome

Overview

Clinical Presentation

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

Latest News & Developments

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Type, Location and Zygosity of KCNJ16 Variants May Determine the Clinical Severity of Hypokalemia Tubulopathy and Deafness (HkTD).

deafness-vitiligo-achalasia syndrome

Overview

Clinical Presentation

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

Latest News & Developments

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Type, Location and Zygosity of KCNJ16 Variants May Determine the Clinical Severity of Hypokalemia Tubulopathy and Deafness (HkTD).