cleidocranial dysplasia 2
Findings
No curated finding names cleidocranial dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of cleidocranial dysplasia caused by a variation in the CBFB gene, characterized by clavicular anomalies (varying from unilateral 'clavicle bipartita' to bilateral clavicular aplasia), dental anomalies (delayed or absent deciduous tooth eruption and supernumerary teeth), skull abnormalities (maxillary hypoplasia and delayed closure of fontanels), and additional bone anomalies (delayed bone age, reduced length of distal phalanges, and pseudoepiphyses of the metacarpals/metatarsals).
Definition from the Mondo Disease Ontology (MONDO:0859307), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Delayed ossification of carpal bonesHPOHP:0001216
- 3 of 3 reported patients
- Short distal phalanx of fingerHPOHP:0009882
- 3 of 3 reported patients
- Congenital pseudoarthrosis of the clavicleHPOHP:0006585
- 5 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 6 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 2 of 5 reported patients
- Wide anterior fontanelHPO
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.
- CBFBHGNC:1539
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: cleidocranial dysplasia 2
- Also called
- CBFB-related cleidocranial dysplasiaCCD2