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.
- 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
Can be hereditary(transferred from parents) with autosomal dominant inheritance or mostly fresh gene mutation( with normal parents)
- Radiology: before birth by USG and after birth by Xray
- Clinical : By physical appearance
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.
- 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
No known treatment and no role of growth hormoneLimb lengthening surgeries are controversial.