Catalog

Acromesomelic dysplasia, Grebe type

No MMS code

Link to WHO Definition

Acromesomelic dysplasia, Grebe type – http://id.who.int/icd/entity/2128783945

Acromesomelic dysplasia Grebe type is a rare autosomal recessive disorder belonging to the group of osteochondrodysplasias. AMDG is characterised 1) clinically, by severe dwarfism with marked micromelia and deformation of upper and lower limbs, with a proximo distal gradient of severity, and 2) radiologically, by short and deformed middle long bones, fusion of carpal and tarsal bones, absence of proximal and middle phalanges and several metacarpal and metatarsal bones. The facial appearance and intelligence are normal, and there are no vertebral abnormalities.