Grebe dysplasia

Definition:

Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers. Homozygous mutations in GDF5 are the cause of the disease.

References:

[1]. J T Thomas, et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet. 1997 Sep;17(1):58-64. [Content Brief]

[2]. Muhammad Faiyaz-Ul-Haque, et al. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet. 2002 Jul 22;111(1):31-7. [Content Brief]

[3]. Ravi Savarirayan, et al. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. [Content Brief]

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