Camptodactyly, tall stature, and hearing loss syndrome

Camptodactyly-tall stature-hearing loss syndrome
Other names	CATSHL syndrome
Specialty	Medical genetics
Symptoms	camptodactyly, hearing loss and tall height
Complications	hearing impairment
Usual onset	birth
Duration	life-long
Causes	Genetic mutation
Diagnostic method	physical examination, genetic testing
Prevention	none
Prognosis	good
Frequency	very rare, only 29 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 missense mutations in the FGFR3 gene.^{[4][5][6][7][8][9]}

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