camptodactyly tall stature & hearing loss syndrome (CATSHL syndrome)

Genetics

• autosomal dominant
• associated with defects in FGFR3

Clinical manifestations

• permanent & irreducible flexion of one or more fingers of the hand &/or feet
• tall stature
• scoliosis &/or a pectus excavatum
• hearing loss
• developmental delay &/or mental retardation
• microcephaly may be present
• hearing loss , congenital or developing in early infancy with variable progression in early childhood, ranging from mild to severe

Diagnostic procedures

• audiology
  • bilateral sensorineural hearing loss
  • absent otoacoustic emissions

Radiology

• X-ray
  • tall vertebral bodies with irregular borders
  • broad femoral metaphyses with long tubular shafts
• computed tomography &/or magnetic resonance imaging
  • brain, middle ear, & inner ear are structurally normal

More general terms

• skeletal dysplasia
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/610474