Freeman Sheldon Syndrome

Crucial
It is possible that the major title of the report Freeman Sheldon Disorder is not the name you anticipated. Please inspect the synonyms detailing to find the alternative name(s) and also problem neighborhood(s) covered by this report.

Words

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

Condition Communities

• None

General Discussion
Freeman-Sheldon disorder is a rare inherited condition identified by numerous contractures (i.e., restricted activity around two or more physical body areas) at birth (genetic), abnormalities of the head and also face (craniofacial) area, problems of the hands as well as feet, and skeletal malformations. Craniofacial abnormalities might consist of particular face attributes that cause the specific to look whistling. These attributes consist of an incredibly small puckered mouth (microstomia); a “full” forehead look, abnormally prominent cheeks; and also slim, pursed lips. Impacted babies might additionally have an abnormally level center section of the face, a high roof of the mouth (taste), an unusually small jaw (micrognathia), an abnormally tiny tongue (microglossia), and/or an elevated, scar-like mark in the form of an “H” or a “V” extending from the reduced lip to the chin. Influenced babies commonly have abnormalities influencing the eyes consisting of widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting eyelid folds up (palpebral cracks). Malformations of the hands as well as feet are likewise particular of Freeman-Sheldon disorder. Children with Freeman-Sheldon disorder might additionally display speech impairment; ingesting and also taking troubles; puking; failing to expand as well as put on weight at the anticipated price (failing to flourish); and/or breathing problems that might lead to serious difficulties. Freeman-Sheldon disorder can be acquired as an autosomal dominant hereditary quality. Nevertheless, the majority of cases happen arbitrarily with no obvious cause (occasionally).