Cardiology · Cardiology / Genetic cardiology
Cantú syndrome
also: Hypertrichotic osteochondrodysplasia
Hypertrichosis, cardiomegaly and osteochondrodysplasia.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- ABCC9, KCNJ8
- Alternative names & eponyms
- Hypertrichotic osteochondrodysplasia
Etiology & mechanism
Gain of function of KATP channel subunits.
Gene(s) involved (2)
Symptoms & signs (7)
In plain terms, someone with Cantú syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Beckwith–Wiedemann syndrome
macrosomia
1 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies
1 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies
1 shared
Camptodactyly–arthropathy–coxa vara–pericarditis syndrome
pericardial effusion
1 shared
Char syndrome
patent ductus arteriosus
1 shared
Coffin–Lowry syndrome
coarse facies
1 shared
Coffin–Siris syndrome
coarse facies
1 shared
Costello syndrome
coarse facies
1 shared
Dressler syndrome
pericardial effusion
1 shared
GATA2 deficiency syndrome
lymphedema
Loading…
Loading…