Cantú syndrome
Cantú syndrome | |
---|---|
Other names | Hypertrychotic osteochondrodysplasia[1] |
Cantú syndrome is inherited via an autosomal dominant manner | |
Symptoms | Cardiomegaly[2] |
Causes | Mutation in ABCC9 gene[3] |
Diagnostic method | Echocardiogram, X-ray[4] |
Treatment | Scoliosis is managed via bracing[5] |
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.[6][5] Less than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.[5]
Signs and symptoms
The main features of this condition are hypertrichosis, osteochondrodysplasia, and cardiomegaly. There is also a characteristic facies. Other features include patent ductus arteriosus, congenital hypertrophy of the left ventricle, and pericardial effusions.[2]
Neurodevelopmental outcome appears normal, but obsessive traits and
Cause
Cantú syndrome apparently is inherited in an
Mechanism
In terms of the mechanism of Cantú syndrome, mutations in the ABCC9 gene total 25/31. Physiologically,
An increase in O2 tension after birth, plus decreasing
Diagnosis
This condition can be diagnosed by
Differential diagnosis
The differential diagnosis of this condition consists of the following:[5]
- Hypertrophic cardiomyopathy
- Beckwith-Wiedemann syndrome
- Berardinelli-Seip congenital lipodystrophy
Treatment
The treatment/management for Cantú syndrome is based on
History
This condition was described in 1982 by Cantú et al.[11]
See also
- Atrichia with papular lesions
- List of cutaneous conditions
References
- ^ "OMIM Entry - # 239850 - CANTU SYNDROME". omim.org. Archived from the original on 2019-03-30. Retrieved 2017-04-01.
- ^ a b "Cantu syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2019-03-29. Retrieved 2017-03-31.
- ^ a b c Reference, Genetics Home. "ABCC9 gene". Genetics Home Reference. Archived from the original on 29 March 2019. Retrieved 23 March 2017.
- ^ PMID 28051078.
- ^ from the original on 2020-08-13. Retrieved 2017-08-30.Initial posting 2014
- PMID 12210352.
- ^ Reference, Genetics Home. "Cantú syndrome". Genetics Home Reference. Archived from the original on 2019-03-29. Retrieved 2017-03-23.
- ^ Pubchem. "Prostaglandin E2 | C20H32O5 - PubChem". pubchem.ncbi.nlm.nih.gov. Archived from the original on 2019-03-30. Retrieved 2017-04-01.
- PMID 23538276.
- ^ "Hypertrichotic osteochondrodysplasia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2018-05-27. Retrieved 2017-04-01.
- ^ Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A, Nazara Z (1982) A distinct osteochondrodysplasia with hypertrichosis--individualization of a probable autosomal recessive entity. Hum Genet 60: 36-41
Further reading
- Tadini, Gianluca; Brena, Michela; Gelmetti, Carlo; Pezzani, Lidia (2015-06-25). Atlas of Genodermatoses, Second Edition. CRC Press. ISBN 9781466598362. Retrieved 2017-04-01
- Friedewald, Vincent E. (2016). Clinical Guide to Cardiovascular Disease. Springer. ISBN 9781447172932.