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dysmorphism-short stature-deafness-disorder of sex development syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dysmorphism-short stature-deafness-disorder of sex development syndrome

MONDO:0016433

Also known as:Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome

Overview

Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.

ResearchLimited published research (9 articles)

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 dysmorphism-short stature-deafness-disorder of sex development syndrome.

9 publications have been identified in PubMed for dysmorphism-short stature-deafness-disorder of sex development syndrome. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (22%), and Clinical Trial Publication (11%).

Recent Publications

Tang J (2026). [PMID: 42095020](https://pubmed.ncbi.nlm.nih.gov/42095020/). *Front Genet*. [Case Report / Case Series]
Yang W (2026). [PMID: 41484376](https://pubmed.ncbi.nlm.nih.gov/41484376/). *European journal of pediatrics*. [Clinical Trial Publication]
Martineau R (2026). [PMID: 41866303](https://pubmed.ncbi.nlm.nih.gov/41866303/). *Prenatal diagnosis*. [Review / Meta-Analysis]
Di Pasquale G (2025). [PMID: 40970566](https://pubmed.ncbi.nlm.nih.gov/40970566/). *Clinical genetics*. [Review / Meta-Analysis]
Zarate YA (2025). [PMID: 40421724](https://pubmed.ncbi.nlm.nih.gov/40421724/). *Clinical genetics*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2282

GARD

Genetic and Rare Diseases Info Center

GARD:18764

Questions for Your Care Team

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dysmorphism-short stature-deafness-disorder of sex development syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team