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deafness-epiphyseal dysplasia-short stature syndrome - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

deafness-epiphyseal dysplasia-short stature syndrome

MONDO:0011047

Also known as:chitty-Hall-Baraitser syndromedeafness, epiphyseal dysplasia, short staturedeafness, femoral epiphyseal dysplasia, short stature and developmental delay

Overview

This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).

Treatments1 FDA approved

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: Hearing loss (hearing impairment), Short stature, and Abnormal femoral epiphysis morphology; and common findings: Inguinal hernia, Pointed chin, Triangular face, and Short neck and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Mild intellectual disability, Global developmental delay, Abnormal speech pattern

Diagnosis

Biomarker and diagnostic research for deafness-epiphyseal dysplasia-short stature syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for deafness-epiphyseal dysplasia-short stature syndrome, including somatropin (Nutropin, approved 1993).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Phenotype severity distribution: 3 very common features, 12 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-epiphyseal dysplasia-short stature syndrome.

118 publications have been identified in PubMed for deafness-epiphyseal dysplasia-short stature syndrome. Research spans Review / Meta-Analysis (70%), Other (8%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Research summaries	83	70%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601351

Orphanet

European rare disease database

Orphanet:3218

GARD

Genetic and Rare Diseases Info Center

GARD:1688

Questions for Your Care Team

→What are the benefits and potential side effects of Nutropin for managing deafness-epiphyseal dysplasia-short stature syndrome?
→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-epiphyseal dysplasia-short stature syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

deafness-epiphyseal dysplasia-short stature syndrome

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

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

Clinical Trials

Recent Publications