hypertrichotic osteochondrodysplasia Cantu type
Findings
No curated finding names hypertrichotic osteochondrodysplasia Cantu type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009406), read 2026-09-29. CC BY 4.0.
Features
39 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.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- CardiomegalyHPOHP:0001640
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Coxa valgaHPOHP:0002673
- Very frequent (80% to 99% of cases)
- Curly eyelashesHPOHP:0007665
- Very frequent (80% to 99% of cases)
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Low anterior hairlineHPOHP:0000294
- Very frequent (80% to 99% of cases)
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- Very frequent (80% to 99% of cases)
- Thick vermilion borderHPOHP:0012471
- Very frequent (80% to 99% of cases)
Show the remaining 27
- Wide mouthHPOHP:0000154
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Broad hallux phalanxHPOHP:0010059
- Frequent (30% to 79% of cases)
- Broad ribsHPOHP:0000885
- Frequent (30% to 79% of cases)
- Cuboid-shaped vertebral bodiesHPOHP:0004634
- Frequent (30% to 79% of cases)
- Deep plantar creasesHPOHP:0001869
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
- ABCC9HGNC:60
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- KCNJ8HGNC:6269
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: hypertrichotic osteochondrodysplasia Cantu type
- Also called
- Cantu syndromehypertrichotic osteochondrodysplasia (Cantu syndrome)