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GTR Home > Conditions/Phenotypes > Acromesomelic dysplasia 2C, Hunter-Thompson type

Acromesomelic dysplasia 2C, Hunter-Thompson type

Synonyms
Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 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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