campomelic dysplasia
Findings
No curated finding names campomelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).
Definition from the Mondo Disease Ontology (MONDO:0007251), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Antenatal onset
HPO, annotations 2026-09-02
Features
88 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cervical kyphosisHPOHP:0002947
- 1 of 1 reported patient
- Cervical spine instabilityHPOHP:0010646
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX9HGNC:11204
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: campomelic dysplasia
- Also called
- campomelic dwarfismCampomelic SyndromeCMD