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Hypertrichotic osteochondrodysplasia, Cantu type
Disease definition
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
ORPHA:1517
Summary
Epidemiology
To date, fewer than 30 cases have been reported.
Clinical description
Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia. Affected individuals have hypertrichosis with thick scalp hair extending onto the forehead and generalized increased body hair. Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals. Mild intellectual deficiency has been described in several patients.
Etiology
Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported.
Detailed information
Professionals
- Guidance for genetic testing
- English (2017, pdf)
- Clinical genetics review
- English (2014)
Additional information