Term Name: camptodactyly-tall stature-scoliosis-hearing loss syndrome
Synonyms: CATSHL syndrome
Definition: 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.
Ontology: Human Disease [DOID:0111160]   ( DOID:0111160 )

Relationships
is a type of: autosomal genetic disease syndrome