camptodactyly-tall stature-scoliosis-hearing loss syndrome

info · Syndrome

A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.

Signs and symptoms

Arachnodactyly
Tall stature
Scoliosis
Hearing impairment
High palate
Intellectual disability
Camptodactyly
Sensorineural hearing impairment
Global developmental delay
Wide femoral metaphysis

Also known as: CATSHL syndrome