Cardiospondylocarpofacial syndrome

Cardiospondylocarpofacial syndrome is a very rare genetic disorder which is characterized by cardiac, digital, osseous anomalies with facial dysmorphisms. Cardiospondylocarpofacial syndrome is believed to be caused by autosomal dominant mutations of the MAP3K7 gene.[3]

Cardiospondylocarpofacial syndrome
Other namesForney syndrome, Forney-Robinson-Pascoe syndrome, Mitral regurgitation-deafness-skeletal anomalies syndrome, Mitral regurgitation-hearing loss-skeletal anomalies syndrome.
A diagram explaining autosomal dominant inheritance
Cardiospondylocarpofacial syndrome has an autosomal dominant form of inheritance.
SymptomsVertebral anomalies, brachydactyly, conductive hearing loss, high palate, mitral regurgitation, mitral valve prolapse, short stature, short palms, and carpal bone synostosis.[1]
CausesAutosomal dominant mutations of the MAP3K7 gene.[1]
Diagnostic methodGenetic testing.
FrequencyOnly 12 cases worldwide.[2]

Signs and symptoms

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Cardiospondylocarpofacial syndrome manifests itself in many different areas of the body. It causes heart defects, multiple congenital anomalies, and dysmorphic features. The following is a list of the symptoms most commonly exhibited:[1]

Less common symptoms include:

Causes

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It is caused by autosomal dominant mutations of the MAP3K7 gene in the long arm of chromosome 6.[4][3]

Epidemiology

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Only 12 cases worldwide have been described in medical literature.[2]

References

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  1. ^ a b c "Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. 2021-06-16. Archived from the original on 16 June 2021. Retrieved 2022-06-12.
  2. ^ a b "Cardiospondylocarpofacial (CSCF) Syndrome". Online Mendelian Inheritance in Man (OMIM). 157800. Retrieved 2022-06-13.
  3. ^ a b Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, et al. (August 2016). "Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome". American Journal of Human Genetics. 99 (2): 407–413. doi:10.1016/j.ajhg.2016.06.005. PMC 4974068. PMID 27426734.
  4. ^ Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, et al. (April 2018). "A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder". European Journal of Human Genetics. 26 (4): 582–586. doi:10.1038/s41431-017-0079-x. PMC 5891500. PMID 29467388.