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.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • 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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”