Achondroplasia Disease

About Gene:

Achondroplasia results in abnormally functioning fibroblast growth factor receptors. Consequently, the growth of the cartilage of growth plates is impeded. Patients develop shorter or deformed bones which gives them a shorter stature.

Number of Patients: 2

Disease Causing Genes:

FGFR3 PXN NPPC GRB10 PLCG1 PEX26

Sign and Symptoms:

  1. Dawrfism
  2. lordosis
  3. Small vertebral canals

Diagnosis:

1) Medical history collection 2) Physical examination

Preventions:

Treatment:

Symptomatic treatment