cardioacrofacial dysplasia 1
MONDO:0030876Mondo
Findings
No curated finding names cardioacrofacial dysplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Accessory oral frenulumHPOHP:0000191
- 2 of 2 reported patients
- Genu valgumHPOHP:0002857
- 2 of 2 reported patients
- Postaxial polydactylyHPOHP:0100259
- 8 of 8 reported patients
- Limb undergrowthHPOHP:0009826
- 5 of 6 reported patients
- Long thoraxHPOHP:0100818
- 2 of 3 reported patients
- Nail dysplasiaHPOHP:0002164
- 3 of 5 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 1 of 2 reported patients
- Long faceHPOHP:0000276
- 1 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 2 reported patients
- Overhanging nasal tipHPOHP:0011833
- 1 of 2 reported patients
- Short philtrumHPOHP:0000322
- 1 of 2 reported patients
- Conical toothHPOHP:0000698
- 1 of 3 reported patients
Show the remaining 3
- DiastemaHPOHP:0000699
- 1 of 3 reported patients
- Atrioventricular canal defectHPOHP:0006695
- Congenital onset
- Complete atrioventricular canal defectHPOHP:0001674
- Congenital onset
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.
- PRKACAHGNC:9380
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: cardioacrofacial dysplasia 1
- Also called
- CAFD1