Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Acromesomelic dysplasia, Hunter-Thompson type

Hunter-Thompson 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. Typically, the shortening of the limbs progresses from proximal to distal.

Systematic

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

References:

1.

Hunter AG et al. (1976) Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.

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2.

Langer LO et al. (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

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3.

Thomas JT et al. (1996) A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.

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4.

Langer LO et al. (1977) Acromesomelic dwarfism: manifestations in childhood.

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5.

None (1974) Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli.

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6.

Campailla E et al. (1971) [Statural deficiency with micromesomelia. Report of 2 familial cases].

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7.

Langer LO et al. (1980) Acromesomelic dysplasia.

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8.

Clarke WN et al. (1994) Ocular findings in acromesomelic dysplasia.

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9.

Orphanet article

Orphanet ID 968 [^]
10.

OMIM.ORG article

Omim 201250 [^]
Update: April 29, 2019