[MIM 601 146]

(complex brachydactyly and hypoplastic fibula)

Extremely rare. Osteochrondrodysplasia. Autosomal recessive transmission of a mutation in the CDMP-1 (cartilage-derived morphogenetic protein-1) gene called GDF5 on 20q11.2.

Association of:

-         severe dwarfism without facial dysmorphism nor vertebral anomalies

-         hypomelia: significant shortening of the  proximal and medial segments of the long bones, especially at the level of the lower limbs, fusion of the bones of the carpus and the tarsus (sometimes clubfeet)

-         hypoplasia or absence of fibulae with dislocation of the knee

-         absence of proximal and medial phalanges; distal phalanges present with nails; tiny toes

-         normal intelligence

Anesthetic implications: 

short stature; correct size of the endotracheal tube ? increased risk of bronchial intubation; difficult peripheral venous access 

References : 

-         Al Kaissi A, Ben Ghachem M, Ben Chehida F, Kozlowski K. 
Acromesomelic dysplasia du Pan. 
Magyar Radiol 2005; 79: 234-9.

-        Manouvrier-Hanu S. 
Malformations syndromiques des membres in 
Progrès en Pédiatrie : syndromes dysmorphiques par Lacombe D et Philip N, Doin 2013, p201-20

Updated: July 2014