Cantu syndrome

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Cantu syndrome2016-11-25T02:00:56+00:00

Cantu syndrome 

GENETICS  

Cantu syndrome is an über rare disorder (OMIM:239850) characterised by congenital hypertrichosis, neonatal macrosomia, distinct osteochondrodysplasia, and cardiomegaly.

Hypertrichosis is manifested as thick scalp hair that extends onto the forehead, general increase in body hair, coarse facial features, including a broad nasal bridge, epicanthal folds, wide mouth and full lips, posing a differential with storage disorders. About half of affected individuals are macrosomic and oedematous at birth; in childhood they appear muscular with little subcutaneous fat, variably accompanied by thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in about 80%. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay; some have learning difficulties or intellectual disability.

Molecular pathology Defects of ABCC9, which encodes an ATP-binding cassette (ABC) transporter that transports various molecules across extra- and intra-cellular membranes, cause Cantu syndrome.

Synonym Hypertrichotic osteochondrodysplasia

References http://www.uniprot.org/uniprot/O60706

http://www.omim.org/entry/239850

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