Medicine:Cardiospondylocarpofacial syndrome
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Short description: Genetic disorder
Cardiospondylocarpofacial syndrome is a very rare genetic disorder which is characterized by cardiac, digital, osseous anomalies with facial dysmorphisms
Signs and symptoms
The following is a list of the symptoms most commonly exhibited:[1]
- Variable vertebral anomalies
- Brachydactyly
- Conductive hearing loss
- High palate
- Mitral regurgitation
- Mitral valve prolapse
- Short stature, nearing dwarfism
- Short palms
- Carpal bone synostosis
Less common symptoms include:
- Failure for permanent teeth to erupt
- Teeth misalignment
- Horseshoe kidney
- Dentition anomalies
- Ocular anomalies
- Nostril anteversion
- Epiphysis in the shape of a cone
- Congenital hearing loss
- Decresed testes size (males)
- Skeletal maturation delay
- Feeding difficulties
- Freckles
- Apple cheeks
- Gastroesophageal reflux
- Hypertelorism
- Joint hypermobility
- Long philtrum
- Rotated ears
- Pseudoepiphyses
- High frequency of middle ear infections
- Rib synostosis
- Scoliosis
- Small foot
- Strabismus
- Tarsal synostosis
- Telecanthus
- Upslanted palpebral fissures
- Broad nasal bridge
- Vesicoureteral reflux
Causes
It is caused by autosomal dominant mutations of the MAP3K7 gene in the long arm of chromosome 6.[2][3][4]
Epidemiology
Only 12 cases worldwide have been described in medical literature.[5]
References
- ↑ "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. https://rarediseases.info.nih.gov/diseases/2362/mitral-regurgitation-conductive-deafness-and-fusion-of-cervical-vertebrae-and-of-carpal-and-tarsal-bones.
- ↑ "A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder". European Journal of Human Genetics 26 (4): 582–586. April 2018. doi:10.1038/s41431-017-0079-x. PMID 29467388.
- ↑ "Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome". American Journal of Human Genetics 99 (2): 407–413. August 2016. doi:10.1016/j.ajhg.2016.06.005. PMID 27426734.
- ↑ "Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones - About the Disease". Genetic and Rare Diseases Information Center. U.S. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/2362/mitral-regurgitation-conductive-deafness-and-fusion-of-cervical-vertebrae-and-of-carpal-and-tarsal-bones.
- ↑ "Cardiospondylocarpofacial (CSCF) Syndrome" (in en-us). Online Mendelian Inheritance in Man (OMIM). https://www.omim.org/entry/157800.
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