What is Whistling Face Syndrome?

Whistling Face Syndrome is an extremely rare inherited pathological condition which is characterized by distinct facial features to include puckered mouth which will look as if the child is trying to whistle. This is how this disorder gets its name.

Additionally, there are also certain other characteristics of Whistling Face Syndrome which includes multiple joint contractures which is present at birth, certain musculoskeletal abnormalities of the hands and feet, high arched palate, abnormally small jaw, and a very short tongue.

There are also certain ocular abnormalities noted in children with Whistling Face Syndrome which include deep set eyes, palpebral fissures, and ptosis. Speech impairment is also one of the features of Whistling Face Syndrome along with swallowing and speech abnormalities.

Children with Whistling Face Syndrome also have delays in achieving developmental milestones. In some cases children with Whistling Face Syndrome also have certain respiratory difficulties which may lead to certain life threatening complications.

Whistling Face Syndrome follows an autosomal dominant pattern of inheritance meaning that only one copy of the faulty gene is enough for a child to develop Whistling Face Syndrome.

What are the Causes of Whistling Face Syndrome?

Majority of the cases of Whistling Face Syndrome occurs due to sporadic mutation in gene or de novo mutations while other cases of this condition occurs as an autosomal dominant trait. In some rare cases, an autosomal recessive pattern of inheritance or Mutation in the MYH3 gene is responsible for the development of Whistling Face Syndrome.

What are the Symptoms of Whistling Face Syndrome?

The classic presenting feature of Whistling Face Syndrome is the distinct facial feature that the child will exhibit at birth in which the child will have a puckered lip which will look as if the child is trying to whistle.

The affected child will also have a high arched palate, an abnormally small jaw, malaligned teeth, and a very small tongue. Affected children with Whistling Face Syndrome will also tend to have a nasal speech as a result of restricted movement of the palate.

Also, abnormalities in the jaw results in the child not being able to suck adequately. Speech delays are also common features of Whistling Face Syndrome. Problems with swallowing and feeding difficulties are also common in children with Whistling Face Syndrome.

Respiratory difficulties are also quite common for children with Whistling Face Syndrome which may sometimes lead to potentially serious complications. Additionally, as a result of problems with swallowing and feeding there are chances that a foreign body may enter and get lodged in the lungs which may result in severe lung infections. There are also certain ocular abnormalities which are present in children with Whistling Face Syndrome. They may include palpebral fissures, epicanthal folds, ptosis along with side set eyes. Children with Whistling Face Syndrome may also have underdeveloped nostrils.

There are also certain musculoskeletal abnormalities which can be seen in children with Whistling Face Syndrome. They may include camptodactyly or ulnar deviation. There may also be contracture of various joints of the body. Club foot is also one of the clinical features of children with Whistling Face Syndrome which may result in ambulation difficulties.

Kyphoscoliosis is yet another symptom that is seen commonly in children with Whistling Face Syndrome. Delays in development and failure to thrive are also certain common symptoms seen in children with Whistling Face Syndrome.

How is Whistling Face Syndrome Diagnosed?

The diagnosis of Whistling Face Syndrome can be made as soon as the child is born with the characteristic facial feature in which the lips of the child will be puckered as if the child is trying to whistle.

Additionally, other musculoskeletal and facial features also can confirm the diagnosis of Whistling Face Syndrome. Advanced imaging studies in the form of CT and MRI scans can also be done to confirm the presence of musculoskeletal abnormalities and confirm the diagnosis of Whistling Face Syndrome.

Additionally an EMG can be done which may reveal underdevelopment of certain muscles of the body which can also confirm the diagnosis of Whistling Face Syndrome. Muscle tissue biopsy in certain cases may also be done to confirm the diagnosis of Whistling Face Syndrome.

How is Whistling Face Syndrome Treated?

The treatment of Whistling Face Syndrome is basically symptomatic and directed towards the symptoms exhibited by the patient. The treatment requires multidisciplinary efforts from a variety of specialists to include pediatricians, orthopedists, and specialists in craniofacial abnormalities, dentists along with speech and language therapist among others who can formulate a treatment plan best suited for the patient with Whistling Face Syndrome.

Surgery is the most preferred treatment for the craniofacial abnormalities including correction of the puckered lips. The abnormally small mouth may also be treated with surgery. Once the mouth becomes more or less normal in appearance then other dental abnormalities like malaligned teeth may be addressed by the dentist.

Surgery may also be required to treat the ocular abnormalities that are a part of Whistling Face Syndrome. Surgery may also be required to treat esophageal abnormalities to treat the swallowing and feeding difficulties. Speech therapy is also quite beneficial in improving feeding difficulties as a result of Whistling Face Syndrome.

Surgery will also be required for other musculoskeletal abnormalities like club feet and other deformities due to Whistling Face Syndrome. The affected child will also require physical therapy post surgery to gain muscle strength and improved ability to ambulate and make the child more independent.

Other than this, for the developmental delays as a result of Whistling Face Syndrome, speech and occupational therapy may be of great benefit in making the child more independent and allow him or her to put his or her thoughts across as much as possible.

The ulnar deviation which is also a characteristic feature of Whistling Face Syndrome tends to improve as the child grows and does not require any surgical procedure to correct it. It is important to note here that early diagnosis and treatment is a must for best possible recovery of a child from Whistling Face Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: September 22, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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