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camptomelic syndrome, long-limb type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

camptomelic syndrome, long-limb type

MONDO:0008904

Also known as:Camptomelic syndrome long limb typecampomelic syndrome long limb typecampomelic syndrome, long-limb type

Overview

GeneticsAutosomal recessive

Clinical Presentation

Features include: Micromelia and Bowing of the long bones.

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

Explore clinical features

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:211990

GARD

Genetic and Rare Diseases Info Center

GARD:1071

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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camptomelic syndrome, long-limb type

Overview

Clinical Presentation

Explore clinical features

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team