camptodactyly-tall stature-scoliosis-hearing loss syndrome
MeSH: C537975ORPHA: 85164
Overview
autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with camptodactyly-tall stature-scoliosis-hearing loss syndrome, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentScoliosisCamptodactyly of fingerAbnormality of lower limb joint
Classification & Codes
MeSH Code
C537975Orphanet Code
ORPHA:85164camptodactyly-tall stature-scoliosis-hearing loss syndrome
| MeSH | C537975 |
| Orphanet | ORPHA:85164 |
| Treatments | 0 drug(s) |
| Symptoms on record | 4 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO