arthrogryposis—distal—type 2B

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arthrogryposis—distal—type 2B2016-11-24T20:42:25+00:00

arthrogryposis—distal—type 2B

ORTHOPAEDICS

Definition An inherited condition (OMIM:601680) characterised by multiple congenital contractures, vertical talus, ulnar deviation of hands, severe camptodactyly, and distinctive facies–triangular shape, prominent nasolabial folds, small mouth and prominent chin.

Molecular pathology

Defects of:

MYH3, which encodes a heavy chain of myosin and is involved in cytokinesis, cell shape, and specialised functions…

TNNI2, which encodes troponin I type 2, a protein expressed in muscle and cartilage…

TNNT3, which encodes type 3 troponin T, the tropomyosin-binding subunit of troponin…

TPM2, which encodes beta-tropomyosin, an actin filament binding protein primarily expressed in slow, type 1 muscle fibers

All cause arthrogryposis—distal—2B. 

Synonyms Arthrogryposis multiplex congenita—distal—2B, Freeman-Sheldon syndrome variant, Sheldon-Hall syndrome

References http://www.uniprot.org/uniprot/P48788

http://www.omim.org/entry/601680

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