Camptodactyly, tall stature, and hearing loss syndrome
Alternate names[edit | edit source]
CATSHL syndrome
Definition[edit | edit source]
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL).
Epidemiology[edit | edit source]
It has been described in around 30 individuals from seven generations of the same family.
Cause[edit | edit source]
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.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormality of lower limb joint(Abnormality of the joints of the lower limbs)
- Camptodactyly of finger(Permanent flexion of the finger)
- Hearing impairment(Deafness)
- Scoliosis
5%-29% of people have these symptoms
- High palate(Elevated palate)
NIH genetic and rare disease info[edit source]
Camptodactyly, tall stature, and hearing loss syndrome is a rare disease.
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