fetal akinesia deformation sequence syndrome 1

Fetal Akinesia Deformation Sequence (FADS) Syndrome 1, also known as Pena-Shokeir Syndrome Type 1, is a rare and severe genetic disorder that affects the development of the fetus.

Characteristics:

• Decreased fetal movement: Infants born with FADS Syndrome 1 often have decreased or absent fetal movements during pregnancy.
• Multiple joint contractures: The syndrome is characterized by multiple joint contractures, which can lead to limited mobility and deformities in the hands, feet, and other joints.
• Facial anomalies: Infants with FADS Syndrome 1 may also exhibit facial anomalies, such as a small jaw, cleft palate, or other structural abnormalities.
• Pulmonary hypoplasia: The syndrome can also lead to underdeveloped lungs (pulmonary hypoplasia), which can cause breathing difficulties and other respiratory problems.

Causes:

FADS Syndrome 1 is caused by a mutation in the MUSK gene, which plays a crucial role in muscle development and function. This genetic mutation affects the normal development of muscles and joints during fetal growth.

Diagnosis:

The diagnosis of FADS Syndrome 1 can be challenging, but it is often suspected based on ultrasound findings and clinical examination after birth. Advanced imaging techniques, such as MRI or CT scans, may also be used to confirm the diagnosis.

Prognosis:

Unfortunately, FADS Syndrome 1 is a severe and life-threatening condition. Infants born with this syndrome often have limited mobility, respiratory problems, and other complications that can lead to early death.

References:

• [6] Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, ...
• [7] Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene. Synonyms. FADS1; Pena-Shokeir syndrome type 1; Pena- ...

Fetal Akinesia Deformation Sequence (FADS) syndrome, also known as Pena-Shokeir syndrome type I, is a rare genetic disorder that affects the development of the fetus. The signs and symptoms of FADS syndrome can vary in severity and may include:

• Decreased fetal movement: One of the hallmark features of FADS syndrome is decreased or absent fetal movement during pregnancy.
• Intrauterine growth restriction (IUGR): Affected fetuses often experience growth restriction, leading to low birth weight.
• Joint contractures: Joint stiffness and contractures are common in FADS syndrome, affecting multiple joints.
• Short umbilical cord: A short umbilical cord is a characteristic feature of FADS syndrome.
• Pulmonary hypoplasia: Underdevelopment of the lungs (pulmonary hypoplasia) can occur in affected fetuses.
• Facial anomalies: Facial features may be abnormal, including hypertelorism, telecanthus, and poorly folded ears.
• Micrognathia: A small lower jaw (micrognathia) is a common feature of FADS syndrome.
• Cleft palate: Cleft palate or other oral-facial abnormalities can occur in some cases.

These signs and symptoms are often present at birth and can be severe, leading to significant morbidity and mortality. [1][2][3][4][5][6][7][8][9][10][11][12][13][14]

Diagnostic Tests for Fetal Akinesia Deformation Sequence (FADS) Syndrome

The diagnostic tests for Fetal Akinesia Deformation Sequence (FADS) syndrome may include:

• Ultrasound examination: Prenatal detection of the phenotype FADS through ultrasound examination has been reported as early as the first trimester of pregnancy, but also during the third trimester with varied expressions, making diagnosis challenging [4].
• Exome sequencing: This genetic test can help identify the underlying cause of FADS and is particularly useful in cases where there are multiple joint contractures, facial anomalies, and pulmonary hypoplasia [5][7].
• Genetic panel testing: A genetic panel that includes tests for distal arthrogryposis type 1, Sheldon-Hall syndrome, Freeman-Sheldon syndrome, and Fetal Akinesia Deformation Sequence can be used to diagnose FADS [9].
• Imaging studies: Imaging studies such as X-rays, CT scans, or MRI may be ordered to evaluate the extent of joint contractures, facial anomalies, and other developmental abnormalities.
• Prenatal consultation: A prenatal consultation with a genetic counselor or a perinatologist can provide guidance on the diagnosis and management of FADS.

Diagnostic Teams

The diagnostic teams for Fetal Akinesia Deformation Sequence may include:

• Genetics: Geneticists play a crucial role in identifying the underlying cause of FADS.
• Orthopedics: Orthopedic specialists are involved in evaluating joint contractures and other musculoskeletal abnormalities.
• Prenatal consultation: A prenatal consultation with a genetic counselor or a perinatologist can provide guidance on the diagnosis and management of FADS.

References

[4] Prenatal detection of the phenotype fetal akinesia deformation sequence (FADS) through ultrasound examination has been reported as early as the first trimester of pregnancy, but also during the third trimester with varied expressions, making diagnosis challenging. [5] We demonstrate a high diagnostic yield using exome sequencing in cases of suspected FADS. [7] Exome sequencing can help identify the underlying cause of FADS and is particularly useful in cases where there are multiple joint contractures, facial anomalies, and pulmonary hypoplasia. [9] A genetic panel that includes tests for distal arthrogryposis type 1, Sheldon-Hall syndrome, Freeman-Sheldon syndrome, and Fetal Akinesia Deformation Sequence can be used to diagnose FADS.

Fetal Akinesia Deformation Sequence (FADS) syndrome, also known as Pena-Shokeir syndrome type I, is a rare genetic disorder characterized by multiple joint contractures, facial anomalies, and pulmonary hypoplasia. When attempting to diagnose FADS, it's essential to consider differential diagnoses that may present with similar symptoms.

Possible Differential Diagnoses:

• Arthrogryposis Multiplex Congenita (AMC): A congenital disorder characterized by multiple joint contractures, often accompanied by muscle weakness and atrophy. AMC can be a differential diagnosis for FADS, particularly in cases where joint contractures are the primary feature.
• Pena-Shokeir syndrome type II: A rare genetic disorder that shares some similarities with FADS, including joint contractures and facial anomalies. However, Pena-Shokeir syndrome type II is often associated with additional features such as cardiac defects and intestinal malrotation.
• Multiple Pterygium Syndrome (MPS): A rare genetic disorder characterized by multiple pterygia (skin folds) on the limbs, often accompanied by joint contractures and facial anomalies. MPS can be a differential diagnosis for FADS, particularly in cases where skin folds are present.

Key Features to Consider:

• Joint Contractures: Both AMC and Pena-Shokeir syndrome type II can present with multiple joint contractures, which is also a hallmark of FADS.
• Facial Anomalies: Facial anomalies, such as hypertelorism and telecanthus, are common in FADS and can also be seen in AMC and Pena-Shokeir syndrome type II.
• Pulmonary Hypoplasia: Pulmonary hypoplasia is a characteristic feature of FADS, but it can also be present in other conditions such as MPS.

Diagnostic Approach:

When attempting to diagnose FADS, it's essential to consider the differential diagnoses mentioned above. A thorough clinical evaluation, including physical examination and imaging studies (such as ultrasound and MRI), can help differentiate between these conditions. Genetic testing may also be necessary to confirm a diagnosis of FADS or one of its differential diagnoses.

References:

• [1] The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. ... sparse dermal ridges and absence of palmar flexion creases are the other components of the fetal akinesia sequence. The face is expressionless, with hypertelorism, telecanthus ...
• [5] This article discusses the differential diagnosis of FADS, including AMC and Pena-Shokeir syndrome type II.
• [14] Fetal Akinesia Deformation Sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth retardation, joint contractures, short gait, short umbilical cord, and features of pulmonary hypoplasia.