Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms CATSHL syndrome Zespół CATSHL Camptodactyly-tall stature-scoliosis-deafness syndrome ORPHA code 85164 OMIM code 610474 ICD10 code Q87.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl