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ENCamptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Alias:
Catshl Syndrome
Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
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Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, also known as catshl syndrome, is related to overgrowth syndrome and craniosynostosis. An important gene associated with Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Endochondral ossification with skeletal dysplasias and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, and related phenotypes are scoliosis and hearing impairment
Related ID：
MESH：C537975
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MALACARDS
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