Summary about Disease
Frontometaphyseal dysplasia (FMD) is a rare genetic disorder characterized by skeletal abnormalities, particularly affecting the bones of the face, skull, and limbs. The condition is often evident at birth or during early childhood. Severity can vary significantly between affected individuals.
Symptoms
Symptoms can include:
Prominent brow ridge (supraorbital ridge)
Widened space between the eyes (hypertelorism)
Small jaw (micrognathia)
Cleft palate (sometimes)
Skeletal abnormalities, including bowing of long bones, scoliosis, and joint contractures
Hearing loss (conductive or sensorineural)
Heart defects (sometimes)
Abnormalities of the genitourinary system (sometimes)
Causes
FMD is typically caused by mutations in the FLNA gene. This gene provides instructions for making a protein called filamin A, which is important for cell structure, migration, and signaling. The mutations are usually *de novo* (new mutations) meaning they occur spontaneously and are not inherited from parents. However, the disorder can also be inherited in an X-linked dominant manner.
Medicine Used
There is no specific medication to cure or directly treat FMD. Treatment focuses on managing the individual's symptoms and complications. This may involve:
Pain management medications
Medications to treat heart conditions if present
Antibiotics to treat ear infections
Is Communicable
No, FMD is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since FMD is a genetic condition, there are no general precautions to prevent it. Genetic counseling and prenatal testing can be considered for families with a history of the disorder to assess the risk of recurrence.
How long does an outbreak last?
FMD is not an infectious disease and therefore does not involve outbreaks. The condition is present throughout the affected individual's life.
How is it diagnosed?
Diagnosis typically involves:
Clinical evaluation based on the characteristic physical features.
Radiographic studies (X-rays) to assess skeletal abnormalities.
Genetic testing to identify mutations in the FLNA gene.
Timeline of Symptoms
Prenatal/Infancy: Some skeletal abnormalities may be detected prenatally. Facial features, such as a prominent brow ridge, may be noticeable at birth.
Early Childhood: Bone and joint problems often become more apparent as the child grows. Hearing loss may be diagnosed.
Childhood/Adolescence: Scoliosis or other spinal problems may develop.
Throughout Life: Ongoing management of symptoms and monitoring for potential complications is necessary.
Important Considerations
A multidisciplinary approach involving specialists such as geneticists, orthopedic surgeons, cardiologists, audiologists, and other healthcare professionals is crucial for managing FMD.
Regular monitoring for potential complications, such as hearing loss, heart problems, and skeletal issues, is essential.
Early intervention and supportive care can help improve the quality of life for individuals with FMD.
Genetic counseling can provide valuable information and support to affected individuals and their families.