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thin ribs-tubular bones-dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thin ribs-tubular bones-dysmorphism syndrome

MONDO:0015462

Also known as:Sharma-Kapoor-Ramji syndrome

Overview

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: Abnormal palate morphology, Macrocephaly, Posteriorly rotated ears, and Abnormal rib morphology and others.

Organ System	Phenotype Count	Example Features
Head and neck	2	Abnormal palate morphology, Macrocephaly

Diagnosis

Biomarker and diagnostic research for thin ribs-tubular bones-dysmorphism syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 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 thin ribs-tubular bones-dysmorphism syndrome.

301 publications have been identified in PubMed for thin ribs-tubular bones-dysmorphism syndrome. Kisho has analyzed 98 by research type. Research spans Review / Meta-Analysis (44%), Case Report / Case Series (16%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Research summaries	43	44%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1506

GARD

Genetic and Rare Diseases Info Center

GARD:18727

Questions for Your Care Team

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Kisho

thin ribs-tubular bones-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

thin ribs-tubular bones-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