Cantu Syndrome (HTOCD)

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Disease Ontology 12 DOID:0060569 OMIM 58 239850 MeSH 45 C535572 D006983 D010009 MESH via Orphanet 46 C535572 UMLS via Orphanet 75 C0795905

Orphanet 60 ORPHA1517 MedGen 43 C0795905 SNOMED-CT via HPO 70 105985007 123982003 123983008 233873004 234097001 240190009 249321001 249671009 249769001 263681008 268251006 299236004 30213001 34048007 368009 373945007 396347007 40159009 441787004 441798003 45227007 54711002 64859006 708670007 72352009 8186001 83330001 86765009 95427009 more UMLS 74 C0795905

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1517Disease definitionCantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.EpidemiologyTo date, fewer than 30 cases have been reported.Clinical descriptionDysmorphic 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.EtiologyMost cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cantu Syndrome, also known as hypertrichotic osteochondrodysplasia, is related to hypertrichosis and cantú syndrome and related disorders. An important gene associated with Cantu Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include bone, heart and pituitary, and related phenotypes are coarse facial features and thick vermilion border

Disease Ontology : ¹² An osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.

Genetics Home Reference : ²⁶ Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.

OMIM : ⁵⁸ Cantu syndrome is 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 to a general increase in body hair. Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. 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 (summary by van Bon et al., 2012). (239850)

UniProtKB/Swiss-Prot : ⁷⁶ Hypertrichotic osteochondrodysplasia: 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.

Wikipedia : ⁷⁷ Cantú syndrome (hypertrychotic osteochondrodysplasia) is a rare condition characterized by... more...

Clinical features from OMIM:

239850

Search Clinical Trials , NIH Clinical Center for Cantu Syndrome

Search GEO for disease gene expression data for Cantu Syndrome.