Genetic basis and clinical features of selected genetic disorders
Achondroplasia - Genetic mutation in the FGFR3 gene, clinical manifestations including short stature and disproportionate limb growth
Achondroplasia is a genetic disorder characterized by short stature and disproportionate limb growth due to a mutation in the FGFR3 gene.
6/7/2025• 4 min read• 34 views
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normalintermediateHuman Anatomy
Genetic Basis and Clinical Features of Achondroplasia
Achondroplasia is a genetic disorder caused by a mutation in the FGFR3 gene, which leads to impaired bone growth and characteristic physical features.
Genetic Mutation in FGFR3
The condition results from a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation leads to abnormal cartilage formation, impacting bone development.
Clinical Manifestations
- Short stature due to inhibited long bone growth
- Disproportionate limb length, especially shorter arms and legs
- Enlarged head (macrocephaly) with prominent forehead
- Spinal complications, such as kyphosis or lordosis
Diagnosis and Management
Achondroplasia is diagnosed through clinical examination and genetic testing. While there is no cure, management includes physical therapy, growth hormone treatment, and surgical interventions in severe cases.
Tags
#Achondroplasia#FGFR3 mutation#Short stature#Bone disorders
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