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short stature-deafness-neutrophil dysfunction-dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

MONDO:0017316

Also known as:thong-Douglas-Ferrante syndromeshort stature deafness neutrophil dysfunction

Overview

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).

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 common findings: Inner ear hearing loss (sensorineural hearing impairment), Glaucoma, Craniosynostosis, and Mutism and others; and sometimes findings: Neoplasm.

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

Diagnosis

Biomarker and diagnostic research for short stature-deafness-neutrophil dysfunction-dysmorphism syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome.

297 publications have been identified in PubMed for short stature-deafness-neutrophil dysfunction-dysmorphism syndrome. Kisho has analyzed 171 by research type. Research spans Review / Meta-Analysis (44%), Case Report / Case Series (19%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Research summaries	76

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2866

GARD

Genetic and Rare Diseases Info Center

GARD:4841

Questions for Your Care Team

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Kisho

short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications