Синдром камптодактилія-високорослості-сколіозу-втрати слуху
ORPHA:85164· ICD-10 Q87.2· Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Childhood