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prenatal bowing - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

prenatal bowing

MONDO:0009906

Overview

GeneticsAutosomal recessive

ResearchLimited published research (8 articles)

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: Bowing of the long bones and Abnormality of the skin.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Bowing of the long bones
Skin

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 prenatal bowing.

8 publications have been identified in PubMed for prenatal bowing. Research spans Case Report / Case Series (88%) and Review / Meta-Analysis (13%).

Recent Publications

Arduç A (2025). [PMID: 40913756](https://pubmed.ncbi.nlm.nih.gov/40913756/). *Prenatal diagnosis*. [Review / Meta-Analysis]
Zhou C (2025). [PMID: 40445021](https://pubmed.ncbi.nlm.nih.gov/40445021/). *Prenatal diagnosis*. [Case Report / Case Series]
Braun D (2025). [PMID: 40835206](https://pubmed.ncbi.nlm.nih.gov/40835206/). *European journal of medical genetics*. [Case Report / Case Series]
Carroll RS (2025). [PMID: 40070560](https://pubmed.ncbi.nlm.nih.gov/40070560/). *JBMR plus*. [Case Report / Case Series]
Begam MA (2025). [PMID: 40521311](https://pubmed.ncbi.nlm.nih.gov/40521311/). *Journal of medical ultrasound*. [Case Report / Case Series]
Alessandri JL (2024). [PMID: 38705458](https://pubmed.ncbi.nlm.nih.gov/38705458/). *European journal of medical genetics*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 11:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:264050

GARD

Genetic and Rare Diseases Info Center

GARD:15225

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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prenatal bowing

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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