cranioectodermal dysplasia 3
Findings
No curated finding names cranioectodermal dysplasia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.
Definition from the Mondo Disease Ontology (MONDO:0013573), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
25 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.
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Broad nailHPOHP:0001821
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients
- NephronophthisisHPOHP:0000090
- 2 of 2 reported patients
- RhizomeliaHPOHP:0008905
- 2 of 2 reported patients
- Short nailHPOHP:0001799
- 2 of 2 reported patients
- Short statureHPOHP:0004322
Show the remaining 13
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- Hypoplasia of teethHPOHP:0000685
- 1 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 2 reported patients
- Peripheral pulmonary artery stenosisHPOHP:0004969
- 1 of 2 reported patients
- Postaxial polydactylyHPOHP:0100259
- 1 of 2 reported patients
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.
- IFT43HGNC:29669
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
3 names
Resolves to: cranioectodermal dysplasia 3
- Also called
- cranioectodermal dysplasia caused by mutation in IFT43Cranioectodermal dysplasia type 3IFT43 cranioectodermal dysplasia