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Grebe syndrome

Synonyms
ACROMESOMELIC DYSPLASIA 2A; Acromesomelic dysplasia, Grebe type; Brazilian achondrogenesis; Chondrodysplasia, Grebe Type; Grebe dysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Acromesomelic dysplasia-2A (AMD2A), or Grebe chondrodysplasia, is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia (Costa et al., 1998). For discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDA1C, BMP-14, BMP14, CDMP1, DUPANS, LAP-4, LAP4, OS5, SYM1B, SYNS2, GDF5
    Summary: growth differentiation factor 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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