[MIM 231070]

(Walt Disney dwarfism)

Rare. Autosomal recessive transmission of a mutation of the  GORAB gene (1q24.2) or the PYCR1 gene (17q25.3). 

Combinaison of:

-         flaccid,  wrinkled skin especially at the dorsal surface of hands and feet, and the abdomen

-         signs of premature aging

-         short stature (dwarfism)

-         ligamentous hyperlaxity with dislocation of hip

-         severe osteoporosis with early spontaneous fractures and vertebral anomalies.

Anesthetic implications: 

difficult venous access, short stature, fragile bones

References : 

Updated: November 2018