A: Autosomal dominant
C: “Champange glass” pelvis in X-rays
O: Ossification affected (Enchondral > Appositional)
N: Nasal bridge small
D: Disproportionate Dwarfism
R: Rhizomelic (proximal i.e. humerus and femur shortening)
O: Out knees (varus deformity)
P: Proliferative zone quantitative defect
L: Little phalanx (brachydactyly) and metacarpals with Leister (trident) hand
A: Automatically resolving kyphosis
S: Spinal stenosis and Short pedicles; Subluxation of radial head
I: Interpedicular distance in spine decreased
A: Alteration (mutation) of FGF-3
It is different from pseudoachondroplasia which is also an autosomal dominant disorder with disproportionate dwarfism caused by mutation in COMP (Collagen Olimetric Protein) but presents with normal facies and cervical instability and also causes early osteoarthritis.
He is the section editor of Orthopedics in Epomedicine. He searches for and share simpler ways to make complicated medical topics simple. He also loves writing poetry, listening and playing music.