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ACHONDROPLASIA

It is a rare genetic disorder resulting in dwarfism due to failure of conversion of cartilage to bone (ossification) during normal formation of bones.It is a rare genetic disorder resulting in dwarfism due to failure of conversion of cartilage to bone (ossification) during normal formation of bones.

Symptoms

  • Dwarfism: short limbs with average sized trunk
  • large skull with bulging vaults and forehead
  • flat nose, short and stubby fingers
  • lumbar lordosis (increased spinal curvature)
  • normal intelligence

Causes

Can be hereditary(transferred from parents)  with autosomal dominant inheritance or mostly fresh gene mutation( with normal parents)

Diagnosis

  • Radiology: before birth by USG and after birth by Xray
  • Clinical : By physical appearance

Preventions

Genetic counseling for affected individuals since they have 1in 2 chance of conceiving affected offsprings with normal spouse and if the spouse is also affected then the offsprings are definitely affected.

Complications

  • Can be assosciated with episodes of  cessation  of breathing(apnoea), obesity and recurrent ear infections
  • Back pain
  • Narrowing of spinal canal: pain, tingling fingers and weakness of legs
  • Hydrocephalus

Treatment

No known treatment and no role of growth hormoneLimb lengthening surgeries are controversial.