Chondrodysplasia, Grebe type
Alternate names[edit | edit source]
Acromesomelic dysplasia, Grebe type; Brazilian achondrogenesis; Grebe syndrome; Grebe chondrodysplasia; AMDG; Grebe dysplasia; Achondrogenesis type II (formerly)
Definition[edit | edit source]
A rare autosomal recessive 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.
NIH genetic and rare disease info[edit source]
Chondrodysplasia, Grebe type is a rare disease.
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