Disease Information for Craniocarpotarsal Dystrophy (Freeman Sheldon)

Freeman Sheldon Syndrome; Craniocarpotarsal dystrophy (dysplasia); Distal arthrogryposis type 2A; FSS

Whistling face syndrome; Whistling face-windmill vane hand syndrome; Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures at birth, abnormalities of the head and face area, defects of the hands and feet, and skeletal malformations; Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling; These features include an extremely small puckered mouth (microstomia); a "full" forehead appearance; unusually prominent cheeks; and thin, pursed lips; Affected infants may also have an unusually flat middle portion of the face, palate, an unusually small jaw (micrognathia), an abnormally small tongue (microglossia), and/or a raised, scar-like mark in the shape of an "H" or a "V" extending from the lower lip to the chin; Affected infants often have abnormalities affecting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting palpebral fissures; Malformations of the hands and feet are also characteristic;speech impairment; swallowing and eating difficulties; vomiting; failure

to thrive; and/or respiratory problems that may result in life-threatening complications; Freeman-Sheldon syndrome can be inherited as an autosomal dominant genetic trait; However, most cases occur randomly with no apparent cause (sporadically)-----------[NORD 2005]-----------------------

flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose; Intelligence is usually normal; Most of the features of this syndrome are due to muscle weakness; Freeman-Sheldon Syndrome is most recognizable by its facial dsplasia : Mouth: The mouth is small, with tight, pursed lips that look the person is attempting to whistle;

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