Symptoms
Symptoms are inherently the definition of the condition itself - unusual facial features. These can include:
Unusual eye spacing (wide-set or close-set eyes)
Differences in the shape or size of the nose
Abnormal ear shape or position
Unusual jaw or chin size/shape
Differences in the shape or size of the mouth or lips
An abnormally shaped head (e.g., too large, too small, or misshapen)
Asymmetry of the face
Cleft lip or cleft palate
Unusual hair patterns or hairline
Skin abnormalities on the face
Causes
Facial dysmorphism has diverse causes:
Genetic Conditions: Many genetic syndromes (e.g., Down syndrome, Treacher Collins syndrome, Fragile X syndrome) include facial dysmorphism as a characteristic feature. These can arise from chromosomal abnormalities or single-gene mutations.
Developmental Issues: Problems during fetal development, such as exposure to certain drugs or toxins, can lead to facial malformations.
Environmental Factors: Certain environmental exposures during pregnancy (e.g., alcohol, certain medications, radiation) can increase the risk.
Unknown Causes: In some cases, the underlying cause remains unknown.
Medicine Used
There is no single "medicine" for facial dysmorphism. Treatment focuses on addressing the underlying cause and managing associated health problems. This might include:
Surgery: Corrective surgeries can address specific facial features (e.g., cleft lip repair, jaw reconstruction).
Medications: Medications are used to manage any related health issues (e.g., heart defects, seizures, developmental delays).
Therapy: Speech therapy, occupational therapy, and physical therapy can help manage developmental delays or physical limitations.
Orthodontics: Braces or other orthodontic treatments can correct dental problems.
Is Communicable
Facial dysmorphism itself is generally NOT communicable (i.e., it cannot be spread from person to person). Genetic conditions and developmental problems are not contagious. However, if the dysmorphism is a result of a disease like congenital rubella syndrome then it can be a result of a communicable disease.
Precautions
There are no specific precautions to prevent facial dysmorphism after a child is born. However, some precautions during pregnancy can lower the risk of certain causes:
Prenatal Care: Regular prenatal care is essential for monitoring the health of the mother and developing fetus.
Avoidance of Teratogens: Avoiding alcohol, smoking, and illicit drugs during pregnancy is crucial. Consult a doctor before taking any medications.
Vaccinations: Ensuring that the mother is up-to-date on vaccinations (especially rubella) can prevent certain infections that can cause birth defects.
Genetic Counseling: Genetic counseling may be helpful for families with a history of genetic disorders.
How long does an outbreak last?
As facial dysmorphism is not a communicable disease, the concept of an "outbreak" is not applicable, unless the dysmorphism is the result of a communicable disease.
How is it diagnosed?
Diagnosis typically involves:
Physical Examination: A thorough physical exam to assess facial features and identify any other abnormalities.
Medical History: Gathering information about the family history and any potential exposures during pregnancy.
Genetic Testing: Chromosomal analysis or gene sequencing can identify genetic abnormalities.
Imaging Studies: X-rays, CT scans, or MRI scans can provide detailed images of the facial bones and soft tissues.
Developmental Assessment: Evaluating the child's developmental milestones.
Timeline of Symptoms
The timeline of symptoms depends on the underlying cause:
Prenatal: Some facial dysmorphisms can be detected during prenatal ultrasound examinations.
At Birth: Many facial dysmorphisms are apparent at birth.
Infancy/Childhood: Some subtle facial differences may become more noticeable as the child grows. Other symptoms related to the underlying cause may also emerge over time (e.g., developmental delays).
Important Considerations
Accurate Diagnosis: Determining the underlying cause is critical for appropriate management and genetic counseling.
Multidisciplinary Care: Management often requires a team of specialists (e.g., geneticists, pediatricians, surgeons, therapists).
Psychosocial Support: Providing emotional support to the child and family is important, as facial dysmorphism can affect self-esteem and social interactions.
Long-Term Management: Many individuals with facial dysmorphism require ongoing medical care and support throughout their lives.