Acromesomelic dysplasia 2A

An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

Also known as: GREBE chondrodysplasia, Grebe chondrodysplasia, Grebe dysplasia, Langer-Saldino achondrogenesis, acromesomelic dysplasia 2A, acromesomelic dysplasia, Grebe type, chondrodysplasia, Grebe type, type II achondrogenesis

0 clinical trials for this condition and its sub-types, 0 tagged with Acromesomelic dysplasia 2A itself.