Campomelic dysplasia and related disorders

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Campomelic dysplasia and related disorders

ORPHA:93439Clinical group

Also called Bent bone dysplasia

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Clinical group

Genes reported in subtypes

FGFR2IL6STLIFRSOX9

Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0019698OMIM 614592OMIM 620076UMLS C0432238

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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