Cantu syndrome; hypertrichotic osteochondrodysplasia
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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
More general terms
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/