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Hypertrichotic osteochondrodysplasia, Cantu type

Orpha number ORPHA1517
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.3
ICD-O -
OMIM
UMLS
  • C0795905
MeSH
  • C535572
MedDRA -
SNOMED CT
  • 239087008

Summary

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

To date, fewer than 30 cases have been reported.

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.

Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported.


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