Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Chondrodysplasia, Grebe type

The Grebe type acromesomelic dysplasia 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

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Demirhan type
BMPR1B
Acromesomelic dysplasia, Grebe type
GDF5
Acromesomelic dysplasia, Hunter-Thompson type
GDF5
GDF5
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

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 93437 [^]
Update: April 29, 2019