trismus-pseudocamptodactyly syndrome
- trismus-pseudocamptodactyly syndrome
- a rare autosomal dominant disorder caused by mutation in the MYH8 gene (locus: 17p13.1), which encodes a myosin heavy chain, characterized by inability to open the mouth fully, facultative camptodactyly resulting from shortened finger-flexor tendons, and short stature. Called also distal arthrogryposis type 7 and Hecht, Hecht-Beals, or Hecht-Beals-Wilson s.
Medical dictionary.
2011.
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Syndrome, Hecht — Inherited disorder transmitted as an autosomal dominant trait in which short tight muscles make it impossible to open the mouth fully or keep the fingers straight when the hand is flexed back. The small mouth creates feeding problems. The hands… … Medical dictionary
Hecht syndrome — A striking genetic disorder in which abnormally short muscles in the jaw make it impossible to open the mouth fully and abnormally short muscles in the hands keep the fingers straight when the hand is flexed back. Difficulty in opening the mouth… … Medical dictionary
Hecht-Beals-Wilson syndrome — Hecht Beals Wil·son syndrome (hektґ bēlzґ wilґsən) [F. Hecht; R.K. Beals; Ralph V. Wilson, American orthopedic surgeon, born 1938] trismus pseudocamptodactyly syndrome … Medical dictionary
Hecht-Beals syndrome — (hektґ bēlzґ) [F. Hecht; Rodney K. Beals, American orthopedic surgeon, 20th century] trismus pseudocamptodactyly syndrome … Medical dictionary
List of diseases (T) — A list of diseases in the English wikipedia.DiseasesTOC T Tc* T cell immunodeficiency primary * Tabatznik syndrome * Tachycardia * Taeniasis * Takayasu arteritis * Talipes equinovarus * Tamari Goodman syndrome * Tang Hsi Ryu syndrome * Tangier… … Wikipedia
distal arthrogryposis — a clinically and genetically heterogeneous, autosomal dominant condition characterized by contractures of the of the hands and feet, causing severe deformity, with variable involvement of more proximal joints. It may occur alone or in combination … Medical dictionary
MYH8 — Myosin, heavy chain 8, skeletal muscle, perinatal, also known as MYH8, is a human gene.cite web | title = Entrez Gene: MYH8 myosin, heavy chain 8, skeletal muscle, perinatal| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… … Wikipedia