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Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Disease definition

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

ORPHA:85164

Classification level: Disorder
  • Synonym(s):
    • CATSHL syndrome
    • Camptodactyly-tall stature-scoliosis-deafness syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.2
  • ICD-11: LD2F.1Y
  • OMIM: 610474
  • UMLS: C1864852
  • MeSH: C537975
  • GARD: 10012
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.