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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
Special laboratory:
- audiology
- bilateral sensorineural hearing loss
- absent otoacoustic emissions
Radiology:
- X-ray
a) tall vertebral bodies with irregular borders
b) broad femoral metaphyses with long tubular shafts
- computed tomography &/or magnetic resonance imaging
- brain, middle ear, & inner ear are structurally normal
General
skeletal dysplasia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 610474
References
UniProt :accession P22607