Acromesomelic dysplasia, Grebe type

Acromesomelic dysplasia, Grebe type is 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.

Aliases

achondrogenesis type II (formerly)
achondrogenesis, Brazilian
achondrogenesis, type II
achondrogenesis, type II, formerly
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Grebe type
AMDG
Brazilian achondrogenesis
Chondrodysplasia, Grebe type
chondrodysplasia, GREBE type
chondrodysplasia, Grebe type
GREBE chondrodysplasia
Grebe chondrodysplasia
Grebe dysplasia
Grebe syndrome
hypochondrogenesis
Langer-Saldino achondrogenesis
type II achondrogenesis