Summary about Disease
Whistling face syndrome, also known as Freeman-Sheldon syndrome (FSS), is a rare genetic disorder characterized by distinctive facial features, including a small mouth with puckered lips (giving the appearance of whistling), and contractures of the hands and feet. The severity of symptoms can vary widely among affected individuals.
Symptoms
Facial: Small mouth (microstomia) with puckered lips, H-shaped dimpling of the chin, prominent nasolabial folds, small nostrils, deep-set eyes, flattened midface, and a mask-like face.
Skeletal: Contractures (stiffness) of the hands and feet (often including clubfoot), scoliosis, restricted joint movement.
Other: Difficulty feeding, speech problems, respiratory issues (in severe cases), and sometimes mild intellectual disability.
Causes
Freeman-Sheldon syndrome is typically caused by mutations in the MYH3 gene (most common), *MYH8*, or *TPM2* gene. These genes provide instructions for making proteins involved in muscle contraction, particularly in skeletal muscles. These mutations disrupt normal muscle development and function, leading to the characteristic features of the syndrome. It's usually inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder. However, some cases occur as new (de novo) mutations.
Medicine Used
There is no specific medicine to cure Freeman-Sheldon syndrome. Treatment focuses on managing the symptoms and improving quality of life. This can involve:
Surgery: To correct contractures of the hands and feet (including clubfoot), and sometimes to improve facial features.
Physical therapy: To improve range of motion and muscle strength.
Speech therapy: To address speech problems.
Feeding support: To ensure adequate nutrition.
Botulinum toxin (Botox) injections: May be used to relax facial muscles and improve some features.
Pain management: Medications to alleviate discomfort associated with contractures or surgical procedures.
Is Communicable
No, Freeman-Sheldon syndrome is not communicable. It is a genetic disorder, meaning it is caused by a gene mutation and cannot be spread from person to person.
Precautions
Since Freeman-Sheldon syndrome is a genetic condition, there are no general precautions to prevent it in individuals already born. For prospective parents with a family history, genetic counseling and prenatal testing (if mutations are known) can provide information about the risk of having a child with the condition. Prenatal screening (such as ultrasounds) can sometimes detect features associated with the syndrome. For individuals with the condition: proactive management of complications, such as respiratory issues or feeding difficulties, is important.
How long does an outbreak last?
Freeman-Sheldon syndrome is not an infectious disease and therefore does not have outbreaks. It is a chronic genetic condition that is present from birth. The symptoms and their severity may change over time, requiring ongoing management.
How is it diagnosed?
Diagnosis is typically based on:
Clinical examination: Identification of characteristic facial features and contractures.
Family history: Assessing if there is a family history of the condition.
Genetic testing: Confirmation through genetic testing to identify mutations in the MYH3, *MYH8*, or *TPM2* gene.
X-rays: May be used to assess skeletal abnormalities, such as scoliosis or clubfoot.
Timeline of Symptoms
Symptoms are usually present at birth. The severity and progression of symptoms can vary between individuals. Some symptoms may become more pronounced with age, while others may be managed through interventions.
Important Considerations
Multidisciplinary care: Individuals with Freeman-Sheldon syndrome require a team of specialists, including geneticists, orthopedic surgeons, plastic surgeons, speech therapists, physical therapists, and other healthcare professionals.
Airway management: Due to facial abnormalities and potential for respiratory issues, airway management during anesthesia and other procedures can be challenging.
Psychosocial support: The distinctive facial features and functional limitations can impact self-esteem and social interactions. Psychosocial support for individuals and their families is important.
Genetic counseling: Providing genetic counseling to families is crucial for understanding the inheritance pattern, recurrence risk, and available options for prenatal testing.