very rare, only 30 cases have been documented in medical literature
Camptodactyly, tall stature, and hearing loss syndrome, also known as CATSHL syndrome,[1] is a rare genetic disorder which consists of camptodactyly, tall height, scoliosis, and hearing loss. Occasionally, developmental delay and intellectual disabilities are reported. About 30 (live) people with the disorder have been recorded in medical literature to date (May 2022); 27 people from a four-generation Utah family and 2 brothers from consanguineous Egyptian parents.[2][3] This disorder is caused by autosomal dominant (rarely recessive) missense mutations in the FGFR3 gene.[4][5][6][7][8][9]
CASTHL syndrome is caused by a dominant loss-of-function missense mutation of FGFR3 gene.[3]
It is known that FGFR3 negatively regulates bone growth through negative regulation of endochondral ossification mechanism.[11] In this disease this mechanism is disrupted.[12]
Diagnosis
CATSHL syndrome diagnosis can be suspected by phenotype, subsequently diagnosis can be confirmed by genetic testing.[13]
Treatment
This disease doesn’t have a cure, although symptomatic management is available.[14]
Prognosis
Prognosis is good, because death cases because of that disease hadn’t been identified.[3][5]
History
The mutation in mice that causes CATSHL-like symptoms was described by Colvin et al in 1996.[12] First human cases have been reported by Toydemir et al in 2006 in a large Utah family.[5]
Prevalence
The frequency of that disease is unknown, although 30 cases have been recorded.[15]
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