Genetic Disorders
Achondroplasia
연골무형성증
FGFR3 mutation (G380R) impairs endochondral ossification - most common dwarfism (AD)
- How common
- Rare but important
- Typical age
- Often pediatric/young adult onset
What is it?
Genetic cause and core pathophysiology of Achondroplasia (Autosomal dominant (FGFR3)).
Commonly affected: long bones
How it develops
- Genetic mutationAutosomal dominant (FGFR3) pattern mutation
- Protein/enzyme defectDefective protein loses normal function
- Cellular consequenceTissue-specific changes occur in long bones
- Clinical manifestationCharacteristic clinical features appear
Symptoms
- Characteristic featuresClassic Achondroplasia presentation
- Organ-specific complicationslong bones involvement
- Progressive courseMay worsen over time
How it is examined
- History + pedigreeConfirm inheritance pattern
- Physical examIdentify specific phenotype
- Genetic testing (confirmatory)Confirm Autosomal dominant (FGFR3) mutation
Imaging
Imaging of affected organ as indicated.
- Disease-specific findings
MRI/CT to assess organ involvement when needed.
- Organ involvement
Non-surgical care
- Genetic counselingPatient + family counseling, prenatal options
- Symptomatic careTargeted symptom management
- Multidisciplinary follow-upCoordinate specialist care
- Enzyme/protein replacement (if applicable)ERT or analogous therapies
Conservative options are generally tried first. Medications listed here can have side effects — discuss them with your prescriber.
When surgery is considered
For complications or targeted therapy
Procedures that may be discussed
- Targeted pharmacotherapy (if available)
- Gene therapy (if available)
- Surgery for complications
Outlook
Early diagnosis and management improve quality of life.