Summary about Disease
Miller syndrome, also known as postaxial acrofacial dysostosis syndrome (POADS), is a very rare genetic disorder characterized by facial and limb abnormalities. The facial features typically include underdeveloped cheekbones (malar hypoplasia), a small lower jaw (micrognathia), and cleft palate. Limb abnormalities primarily affect the arms and legs, with missing or underdeveloped bones in the forearms and lower legs, as well as missing fingers or toes. Intelligence is usually normal.
Symptoms
Facial: Underdeveloped cheekbones (malar hypoplasia), small lower jaw (micrognathia), cleft palate (sometimes), down-slanting eyes, absent or hypoplastic eyelashes of the lower lids, small nose.
Limb: Missing or underdeveloped bones in forearms (radius and ulna) and lower legs (tibia and fibula), missing fingers/toes (ectrodactyly), fusion of fingers/toes (syndactyly), clubfoot.
Other: Hearing loss, respiratory problems (due to facial abnormalities), slow growth.
Causes
Miller syndrome is caused by mutations in the DHODH gene. This gene provides instructions for making an enzyme involved in the production of pyrimidines, which are building blocks of DNA and RNA. Mutations in *DHODH* disrupt this process, leading to abnormal development during embryogenesis. It is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
There is no specific medicine to cure Miller syndrome. Treatment focuses on managing the symptoms and improving the quality of life. This may include:
Surgery: To repair cleft palate, correct limb deformities, and improve facial structure.
Hearing Aids: To address hearing loss.
Feeding Support: For infants with difficulty feeding due to facial abnormalities.
Physical Therapy: To improve mobility and function.
Occupational Therapy: To assist with daily living activities.
Speech Therapy: To address speech and language difficulties related to cleft palate.
Is Communicable
No, Miller syndrome is not communicable. It is a genetic disorder caused by gene mutations and cannot be spread from person to person.
Precautions
Since Miller syndrome is a genetic condition, precautions primarily involve genetic counseling for families who have a child with the condition or who are at risk of carrying the mutated DHODH gene. This helps them understand the inheritance pattern and the risks of having another affected child. There are no environmental precautions to prevent the condition.
How long does an outbreak last?
Miller syndrome is not an infectious disease and does not involve outbreaks. It is a congenital condition present from birth.
How is it diagnosed?
Diagnosis of Miller syndrome is typically based on:
Clinical Examination: Evaluating the characteristic facial and limb abnormalities.
X-rays: To assess bone development in the limbs.
Genetic Testing: To identify mutations in the DHODH gene. This confirms the diagnosis.
Timeline of Symptoms
Symptoms are present from birth (congenital). The severity of symptoms can vary from person to person. The facial and limb abnormalities are apparent at birth. Other symptoms, such as hearing loss or respiratory problems, may become apparent shortly after birth or during early infancy.
Important Considerations
Multidisciplinary Care: Management requires a team of specialists, including craniofacial surgeons, orthopedic surgeons, audiologists, speech therapists, and other healthcare professionals.
Psychosocial Support: The condition can have a significant impact on self-esteem and quality of life. Psychological support for the individual and their family is crucial.
Early Intervention: Early intervention programs can help children with Miller syndrome reach their full potential.
Genetic Counseling: Essential for families planning to have more children.