Acromesomelic dysplasia, Grebe type

From BugSigDB

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.
  • 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