Whistling face syndrome
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.
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
52616002 – Freeman-Sheldon syndrome