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hypertrichotic osteochondrodysplasia Cantu type

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


GARD Rare
Mondo Description Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Uniprot Description A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability.
Disease Ontology Description An osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.
Mondo Term and Equivalent IDs
MONDO:0009406:  hypertrichotic osteochondrodysplasia Cantu type
GARD:0008585: 
MESH:C535572: 
Orphanet:1517: 
SCTID:239087008: 
UMLS:C0795905: