Achondroplasia
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Achondroplasia
Achondroplasia is a skeletal dysplasia of genetic origin that affects bone development. This condition, which restricts the growth of long bones in particular, is the most common cause of dwarfism. The main cause of the disease is a mutation in the FGFR3 (Fibroblast Growth Factor Receptor 3) gene. This mutation slows down the ossification process of cartilage and leads to disproportionate body growth.
Main Symptoms
Common physical characteristics seen in individuals with achondroplasia:
- Shortness of the arms and legs (especially upper arms and thighs)
- Normal size body
- Wide forehead structure
- Flat and depressed nose bridge
- Short and thick fingers (trident hand appearance)
- Decreased muscle tone (hypotonia - especially in infancy)
- "O" shaped curvature of the legs
- Increased risk of hydrocephalus in the head
- Spinal curvatures (lordosis, kyphosis, etc.)
- Middle ear infections and hearing problems that can be seen at an early age
Intelligence and Cognitive Development
The intelligence level of individuals with achondroplasia is usually normal. However, in some cases, language development and motor skills may be delayed. Therefore, early developmental follow-up is as important as physical supportive treatment.
Diagnosis Process
Diagnostic methods include:
- Prenatal ultrasound: Shortening of the long bones, especially after 24 weeks
- Postpartum physical examination
-Radiological imaging: Typical findings in bone structures
- Genetic testing: Confirmation of FGFR3 mutation
Treatment and Follow-up Process
Although there is no established treatment method for achondroplasia, many supportive methods can be applied to improve quality of life:
With NY Health Consulting, You are Safe in Achondroplasia Follow-up
- Team of specialized orthopedic and pediatricians
- Rehabilitation plans appropriate for developmental follow-up
- Coordinated treatment processes with contracted hospitals
- Family-specific counseling and multilingual support
Proper follow-up and support are crucial for your child to reach their potential. With NY Health Consulting you have a strong companion.