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MCID: CMP067
MIFTS: 13
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Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Categories:
Genetic diseases
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MalaCards integrated aliases for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:Classifications: |
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Disease Ontology
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12
An autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16.
MalaCards based summary : Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, also known as catshl syndrome, is related to camptodactyly, tall stature, and hearing loss syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Related phenotypes are scoliosis and hearing impairment |
Diseases related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:33
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Cochrane evidence based reviews: catshl syndrome |
Articles related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:
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Search
GEO
for disease gene expression data for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome.
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