[MIM 146 000]

Incidence: about 1/33,000. Autosomal dominant transmission or de novo mutation of the FGFR3 gene (4p16.3). Very similar to achondroplasia but:

-         less marked short stature: adult size between 125 and 160 cm

-         less marked micromelia and lumbar hyperlordosis

-        no facial dysmorphism, orthopedic malformations or neurological problems

-        the lower limbs may be curved

-        less severe radiological abnormalities

-        intellectual development is most often normal.

The diagnosis is usually evoked after 2 to 4 years of age following slowing of the growth curve.

Anesthetic implications : 

see achondroplasia

References:

Updated: August 2021