Camptodactyly, tall stature, and hearing loss syndrome
| Camptodactyly-tall stature-hearing loss syndrome | |
|---|---|
| Other names | CATSHL syndrome |
| Specialty | Medical genetics |
| Symptoms | camptodactyly, hearing loss and tall height |
| Complications | hearing impairment |
| Usual onset | birth |
| Duration | life-long |
| Causes | Genetic mutation |
| Diagnostic method | physical examination, genetic testing |
| Prevention | none |
| Prognosis | good |
| Frequency | very rare, only 30 cases have been documented in medical literature |
Camptodactyly, tall stature, and hearing loss syndrome, also known as CATSHL syndrome, is a rare genetic disorder which consists of camptodactyly, tall height, scoliosis, and hearing loss. Occasionally, developmental delay and intellectual disabilities are reported. About 30 (live) people with the disorder have been recorded in medical literature to date (May 2022); 27 people from a four-generation Utah family and 2 brothers from consanguineous Egyptian parents. This disorder is caused by autosomal dominant (rarely recessive) missense mutations in the FGFR3 gene.