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Whistling face syndrome
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Whistling face syndrome

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Synopsis

Whistling face syndrome (Freeman–Sheldon syndrome, distal arthrogryposis type 2A) is a rare, congenital genetic disease that primarily affects the face, hands, and feet. Patients have a unique facial appearance characterized by a small mouth with pursed lips, referred to as "whistling face" appearance.

May be caused by MYH3 gene mutations, although not in every case. Can be inherited in an autosomal dominant or autosomal recessive pattern; in some cases, inheritance pattern is unknown.

Patients may have distinctive facial features including prominent forehead and brow ridges, midface hypoplasia, short nose, long philtrum, deep nasolabial folds, full cheeks, chin dimple shaped like an H or V, microglossia, micrognathia, and high-arched palate.

Affected patients may present with ocular abnormalities including hypertelorism, deep-set eyes, down-slanting palpebral fissures, a narrowing of eye opening, ptosis, and strabismus.

Patients may present with joint contractures that restrict movement. Most patients will have multiple contractures in the hands and feet at birth (distal arthrogryposis). Patients may present with camptodactyly, a hand deformity where all of the fingers are angled out toward the fifth finger, and clubfoot. Some patients may have scoliosis.

Patients may experience dysphagia, failure to thrive, and potentially life-threatening respiratory complications. Some patients experience speech problems and hearing loss. Intelligence is typically unaffected, but about one-third of patients have a learning disability.

Patients are at increased risk of malignant hyperthermia.

For more information on Freeman-Sheldon syndrome, see OMIM.

For more information on whistling face syndrome, recessive form, see OMIM.

Codes

ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

SNOMEDCT:
52616002 – Freeman-Sheldon syndrome

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Last Updated: 03/29/2017
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Whistling face syndrome
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Whistling face syndrome : Hearing loss, Joint contractures, Ulnar deviation, Facies
Copyright © 2019 VisualDx®. All rights reserved.