Whistling face windmill vane hand syndro…

It is feasible that the main title of the rating Freeman Sheldon Syndrome is not the name you expected. Please check the basic synonyms detailing to discover the alternating name(s) as well as disorder class(s) covered by this rating.


  • Craniocarpotarsal dystrophy (dysplasia)
  • FSS
  • Whistling face disorder
  • Whistling face-windmill vane hand disorder
  • Distal arthrogryposis type 2A
  • DA2A

Problem Class

  • None

General Discussion
Freeman-Sheldon disorder is an unusual inherited condition characterized by several contractures (i.e., restricted motion around 2 or even more physical body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, flaws of the hands and also feet, and also skeletal malformations. Craniofacial abnormalities might consist of unique face features that cause the specific to appear to be whistling. These attributes include an incredibly little puckered mouth (microstomia); a “complete” temple appearance, uncommonly prominent cheeks; as well as thin, pursed lips. Influenced infants could also have an uncommonly level middle section of the face, a high roofing of the mouth (palate), an abnormally tiny mouth (micrognathia), an extraordinarily little tongue (microglossia), and/or an increased, scar-like mark in the form of an “H” or a “V” expanding from the lower lip to the chin. Affected babies typically have irregularities impacting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting eyelid folds up (palpebral crevices). Malformations of the hands as well as feet are additionally unique of Freeman-Sheldon disorder. Kids with Freeman-Sheldon disorder could additionally display speech problems; ingesting and eating problems; puking; failing to grow as well as gain weight at the anticipated rate (failing to thrive); and/or respiratory problems that could lead to life-threatening complications. Freeman-Sheldon disorder could be acquired as an autosomal leading hereditary characteristic. However, most cases occur arbitrarily with no noticeable reason (sporadically).

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