Summary about Disease
Fetal akinesia deformation sequence (FADS), also known as Pena-Shokeir syndrome, is a rare condition characterized by decreased or absent fetal movement in utero, leading to a predictable pattern of multiple congenital contractures (arthrogryposis), facial anomalies, lung hypoplasia, and often intrauterine growth restriction. The severity and specific features can vary.
Symptoms
Arthrogryposis: Multiple joint contractures affecting limbs.
Facial Anomalies: Micrognathia (small jaw), high-arched palate, flat facial features, hypertelorism (widely spaced eyes), epicanthal folds.
Lung Hypoplasia: Underdeveloped lungs, often leading to respiratory distress at birth.
Intrauterine Growth Restriction (IUGR): Smaller than expected size for gestational age.
Polyhydramnios: Excessive amniotic fluid.
Other potential anomalies: Cardiac defects, central nervous system abnormalities, abdominal wall defects.
Causes
FADS is genetically heterogeneous, meaning it can be caused by mutations in a variety of genes. These mutations can affect:
Neuromuscular function: Impairing nerve and muscle development/function.
Connective tissue formation: Affecting joint and skeletal development.
Fetal movement: Directly limiting fetal activity. The inheritance pattern can be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the specific gene involved. In some cases, the cause is unknown. Environmental factors might also play a role in a small subset of cases.
Medicine Used
There is no cure for FADS. Treatment is primarily supportive and aims to manage the symptoms:
Respiratory Support: Mechanical ventilation or other respiratory assistance for lung hypoplasia.
Physical Therapy: To improve joint mobility and prevent further contractures.
Occupational Therapy: To aid in developing adaptive skills.
Surgery: Corrective surgeries may be considered for certain contractures or other structural anomalies.
Nutritional Support: Due to feeding difficulties.
Management of specific anomalies: Treatment for cardiac defects, etc., as needed.
Is Communicable
No, Fetal Akinesia Deformation Sequence is not communicable. It is a genetic condition and is not caused by an infectious agent.
Precautions
Since FADS is a genetic condition, there are no specific precautions to prevent it from spreading. Genetic counseling is recommended for families with a history of FADS or arthrogryposis to assess the risk of recurrence in future pregnancies. Prenatal diagnosis (e.g., ultrasound, amniocentesis, chorionic villus sampling) may be available to identify affected fetuses.
How long does an outbreak last?
FADS is not an outbreak-related disease. It's a congenital condition present from birth. There is no "outbreak" duration as it's not caused by an infectious agent.
How is it diagnosed?
Diagnosis of FADS is typically made through:
Prenatal Ultrasound: Detection of decreased fetal movement, polyhydramnios, and fetal anomalies (contractures, facial features).
Fetal MRI: May provide more detailed imaging of fetal anatomy.
Postnatal Physical Examination: Assessment of joint contractures, facial features, and other anomalies.
Genetic Testing: To identify specific gene mutations. Muscle biopsy may be done to rule out specific muscle disorders.
Radiographs: For skeletal assessment.
Timeline of Symptoms
Prenatal: Decreased or absent fetal movement is usually detected during the second or third trimester. Polyhydramnios often develops. Anomalies may be observed on ultrasound.
At Birth: Arthrogryposis, facial anomalies, respiratory distress due to lung hypoplasia.
Infancy/Childhood: Ongoing management of contractures, respiratory issues, and other associated anomalies. Developmental delays may occur.
Important Considerations
Prognosis: The prognosis of FADS is variable and depends on the severity of the condition. Severe lung hypoplasia often leads to early mortality. Individuals with milder forms may survive into childhood or adulthood, but with significant physical disabilities.
Genetic Counseling: Essential for families to understand the inheritance pattern and recurrence risk.
Multidisciplinary Care: Affected individuals require a team of specialists, including neonatologists, geneticists, orthopedic surgeons, physical therapists, occupational therapists, and pulmonologists.
Ethical Considerations: Prenatal diagnosis and potential termination of pregnancy raise ethical considerations that should be discussed with healthcare providers and genetic counselors.