Freeman-Sheldon syndrome

Freeman-Sheldon syndrome
an autosomal dominant syndrome caused by mutation in the MYH3 gene (locus: 17p13.1), which encodes a myosin heavy chain. It consists of characteristic flattened, masklike facies; microstomia, the lips protruding as in whistling; deep-set eyes with hypertelorism; camptodactyly with ulnar deviation of the fingers; and talipes equinovarus. Called also distal arthrogryposis type 2A, craniocarpotarsal dystrophy, whistling face syndrome, and whistling face–windmill vane hand syndrome.

Medical dictionary. 2011.

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  • Freeman–Sheldon syndrome — Freeman Sheldon syndrome Classification and external resources ICD 9 759.89 …   Wikipedia

  • Freeman-Sheldon syndrome — Infobox Disease Name = Freeman Sheldon syndrome Caption = DiseasesDB = 31817 ICD10 = ICD9 = ICD9|759.89 ICDO = OMIM = 193700 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Freeman Sheldon syndrome (FSS), also termed distal arthrogryposis …   Wikipedia

  • Freeman-Sheldon syndrome — Free·man Shel·don syndrome (freґmən shelґdən) [Ernest Arthur Freeman, British orthopedic surgeon, 1900–1975; Joseph Harold Sheldon, British physician, 1920–1964] see under syndrome …   Medical dictionary

  • Syndrome de Freeman-Sheldon — Classification et ressources externes CIM 9 759.89 …   Wikipédia en Français

  • Freeman-Sheldon-Syndrom — Fehlstellung der Finger/Handgelenke Das Freeman Sheldon Syndrom (FSS, Synonyme Craniocarpotarsale Dysplasie/Dystrophie, whistling face syndrome) ist ein extrem seltenes, meistens autosomal dominant vererbtes Syndrom, das aber auch jederzeit als… …   Deutsch Wikipedia

  • Freeman — can mean any of the following:Things* An individual not tied to land under medieval serfdom, unlike a villein or serf * A person who has been awarded Freedom of the City or Freedom of the Company in a Livery Company * Freeman and Freeman II ,… …   Wikipedia

  • Sheldon-Hall syndrome — an autosomal domininant syndrome caused by mutations in any of several genes that encode for troponin or a mysoin heavy chain, with characteristics similar to those of Freeman Sheldon syndrome but without the severe deformity of the mouth and… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Freeman — Ernest A., †1975. See F. Sheldon syndrome …   Medical dictionary

  • Sheldon — J.H., English pediatrician, 1920–1964. See Freeman S. syndrome …   Medical dictionary

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