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Cantu syndrome; hypertrichotic osteochondrodysplasia
Epidemiology:
- rare
Genetics:
- heterozygous mutation in the ABCC9 gene on chromosome 12p12
Clinical manifestations:
- congenital hypertrichosis
- thick scalp hair which extends onto the forehead
- general increase in body hair
- neonatal macrosomia,
- osteochondrodysplasia
- cardiomegaly
General
genetic syndrome (multisystem disorder)
hypertrichosis
osteochondrodysplasia
Database Correlations
OMIM 239850
References
- Cantu syndrome
Genetics Home Reference
https://ghr.nlm.nih.gov/condition/cantu-syndrome
- Cantu syndrome
Genetic and Rare Diseases Information Center ...
https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome
- Grange DK, Nichols CG, Singh GK
Cantu Syndrome and Related Disorders
GeneReviews [Internet]. Initial Posting October 2, 2014
https://www.ncbi.nlm.nih.gov/books/NBK246980/