Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Acromesomelic dysplasia, Grebe type

The Grebe type chondrodysplasia is an autosomal recessive disorder caused by mutations of the GDF5 gene. The disorder is characterized by severe dwarfism, hypomelia, and deformation of both limbs, and various other bone anomalies can be present.

Systematic

Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Demirhan type
Acromesomelic dysplasia, Grebe type
GDF5
Acromesomelic dysplasia, Hunter-Thompson type
GDF5

References:

1.

Lin K et al. (1996) Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2.

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2.

Thomas JT et al. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

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3.

None (1986) Heterozygote expression in Grebe chondrodysplasia.

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4.

Teebi AS et al. (1986) Severe short-limb dwarfism resembling Grebe chondrodysplasia.

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5.

None (1968) A rare genetic syndrome.

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6.

Kumar D et al. (1984) Grebe chondrodysplasia and brachydactyly in a family.

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7.

Costa T et al. (1998) Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.

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8.

Lin AE et al. (2001) Grebe syndrome in Vietnamese sisters: not Agent Orange.

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9.

None (1964) A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.

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10.

OMIM.ORG article

Omim 200700 [^]
11.

Orphanet article

Orphanet ID 2098 [^]
Update: April 29, 2019