Whistling face syndrome

Distal arthrogryposis, type 2A, Freeman-Burian syndrome, Freeman-Sheldon syndrome, Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, DA2A, FBS, Whistling face-windmill vane hand syndrome

Overview

Type of disease: Rare Condition or Disease

Freeman-Burian syndrome (FBS) or “whistling face” is a very rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet. Some persons with FBS have few and mild problems; very rarely, patients die in infancy from severe respiratory complications. Certain problems are required to be present to make a diagnosis of FBS, including: a very small mouth, whistling-face appearance or pursed lips, “H” or “V” shaped chin dimple, and very obvious crease from the nostril to the corners of the mouth. Classically, persons also have restricted movement in joints of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.

Many additional problems have been associated with FBS, especially problems of the face, including: over-crowded teeth, poorly aligned teeth, very high roof of the mouth, extra distance between the nose and upper lip, bulging ridges above the eyes, very small tongue, drooping eyelids, cross-eyed problem, extra inner skin-fold of the eye next to the nose, down-slanting eyelid folds, very small eyelid opening, sunken appearance of eyes, widely spaced eyes, low set and tilted ears, mild to moderate hearing impairment, under-developed chin , under-developed and recessed jaw, wide nasal bridge, small nose, under-developed nostrils, long face, and flat mid-face.

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