Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Synonyms: CATSHL syndrome | Camptodactyly-tall stature-scoliosis-deafness syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly tall stature scoliosis and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene leading to a partial loss of function of the encoded protein which is a negative regulator of bone growth.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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