Symptoms
Symptoms can vary but often include:
Downward slanting eyes
Notched lower eyelids (coloboma)
Underdeveloped or absent cheekbones (malar hypoplasia)
Small lower jaw (micrognathia) and chin
Hearing loss (conductive) due to malformed middle ear bones
Absent, small, or malformed ears (microtia or anotia)
Cleft palate
Airway problems (in severe cases)
Dental abnormalities
Causes
MFD is caused by genetic mutations. In about 40-50% of cases, it is caused by mutations in the TCOF1 gene. Other genes involved include *POLR1C* and *POLR1D*. These genes play a role in the early development of facial bones and tissues. Most cases (60%) arise from new mutations, meaning they occur spontaneously and are not inherited from parents. However, the condition can be inherited in an autosomal dominant pattern.
Medicine Used
There is no specific medicine to cure MFD. Treatment focuses on managing the symptoms and improving the quality of life. This often involves:
Surgery: Reconstructive surgery to correct facial deformities, such as rebuilding cheekbones and jaw.
Hearing aids: To address hearing loss.
Speech therapy: To improve speech and communication skills if cleft palate is present or jaw is underdeveloped.
Orthodontics: To correct dental issues.
Feeding support: In infants with difficulty feeding due to jaw abnormalities.
Respiratory support: Tracheostomy or other interventions may be needed in severe cases with airway obstruction.
Is Communicable
No. Mandibulofacial Dysostosis is a genetic disorder and is not communicable or contagious. It cannot be spread from person to person.
Precautions
Since MFD is a genetic condition, there are no precautions to prevent it in the general sense. However, genetic counseling is recommended for families with a history of MFD who are planning to have children. Genetic testing can sometimes identify carriers of the responsible genes. Early diagnosis and comprehensive management of symptoms are important for affected individuals.
How long does an outbreak last?
MFD is not an infectious disease and does not have "outbreaks". It is a lifelong condition. Management and treatment are ongoing throughout the individual's life.
How is it diagnosed?
Diagnosis is typically made based on:
Physical examination: Assessment of facial features and other characteristic signs.
X-rays and CT scans: To evaluate the bone structure of the face and skull.
Hearing tests: To assess hearing loss.
Genetic testing: To confirm the diagnosis and identify the specific gene mutation. Can be done prenatally or postnatally.
Timeline of Symptoms
Symptoms are present at birth. The severity and specific manifestations can vary.
Prenatal: May be detected during prenatal ultrasound, but not always.
Infancy: Facial abnormalities, breathing difficulties, feeding problems.
Childhood: Hearing loss, speech difficulties, dental problems become apparent.
Adolescence/Adulthood: Continued management of facial deformities, hearing loss, and other related issues. Corrective surgeries.
Important Considerations
Multidisciplinary care: Management requires a team of specialists, including surgeons, audiologists, speech therapists, dentists, and geneticists.
Psychosocial support: The visible facial differences can impact self-esteem and social interactions. Counseling and support groups can be beneficial.
Airway management: Infants with severe MFD may require early intervention to secure their airway.
Hearing loss: Early identification and treatment of hearing loss are crucial for speech and language development.
Genetic counseling: Important for families to understand the inheritance pattern and recurrence risk.