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GTR Home > Conditions/Phenotypes > Hypertrichotic osteochondrodysplasia Cantu type

Hypertrichotic osteochondrodysplasia Cantu type

Synonyms
Cantu syndrome; Hypertrichotic osteochondrodysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Cantú Syndrome
Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Dorothy K Grange
Colin G Nichols
Gautam K Singh
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Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2, ABCC9
    Summary: ATP binding cassette subfamily C member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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