fetal akinesia deformation sequence syndrome

Fetal Akinesia Deformation Sequence (FADS) Syndrome: A Complex Condition

The Fetal Akinesia Deformation Sequence (FADS) syndrome is a rare and complex condition characterized by impaired fetal movement, resulting in various developmental defects. This heterogeneous disorder can manifest differently in each individual, making diagnosis and management challenging.

Key Features of FADS Syndrome

• Impaired fetal movement: Decreased or absent fetal activity during pregnancy
• Multiple joint contractures: Arthrogryposis multiplex congenita (AMC) is a common feature, characterized by multiple joint contractures
• Facial anomalies: Cleft palate, downslanted palpebral fissures, high palate, and tented upper lip vermilion are commonly observed
• Pulmonary hypoplasia: Underdeveloped lungs can lead to respiratory complications
• Intrauterine growth restriction (IUGR): Fetal growth is restricted due to impaired fetal movement
• Cryptorchidism: Undescended testes may be present in affected males

Causes and Inheritance

FADS syndrome can be inherited in an autosomal recessive manner, with genetic changes in the RAPSN or DOK7 genes contributing to the condition. However, most cases are sporadic, and the exact cause remains unknown.

Prognosis and Management

The prognosis for FADS syndrome is generally poor, with many affected individuals being stillborn or dying shortly after birth due to complications related to pulmonary hypoplasia. In live births, management focuses on supportive care, including respiratory support and palliative care.

References:

• [1] Vogt et al. (2009) describe FADS syndrome as a clinically and genetically heterogeneous constellation of features.
• [3] The condition shows phenotypic overlap with the lethal form of multiple pterygium syndrome.
• [6] Fetal akinesia deformation sequence is characterized by impaired fetal movement and resulting developmental defects.
• [8] FADS refers to decreased intrauterine fetal movement and its consequent manifestations of multiple joint contractures.

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Fetal Akinesia Deformation Sequence (FADS) syndrome, also known as Pena-Shokeir syndrome, is a rare condition characterized by decreased fetal movement and multiple joint contractures. The signs and symptoms of FADS can vary in severity and may include:

• Multiple joint contractures: This is one of the hallmark features of FADS, where joints become stiff and immobile due to muscle weakness or absence [1][2].
• Facial anomalies: Facial features may be affected, with characteristics such as micrognathia (small jaw), midface hypoplasia, and other facial abnormalities [3][4].
• Pulmonary hypoplasia: The lungs may not develop properly, leading to respiratory problems after birth [5].
• Decreased fetal movement: Fetal akinesia is a key feature of FADS, where the fetus shows reduced or absent movement in utero [6][7].

In some cases, additional symptoms may be present, such as:

• Muscle rigidity: Muscles in the neck and legs may become rigid, making it difficult for the child to move or walk after birth [8].
• Hydrops fetalis: In severe cases, FADS can lead to hydrops fetalis, a condition characterized by fluid accumulation in various body compartments, such as skin edema, hydrothorax, ascites, pericardial or pleural effusion [9].

It's essential to note that the severity and presentation of FADS can vary widely among affected individuals. Prenatal diagnosis and genetic analysis are crucial for identifying this condition and providing appropriate care and support.

References:

[1] S Adam (2018) - Type 1: It is a fetal akinesia/hypokinesia sequence that is characterized by multiple joint contractures, facial anomalies, and pulmonary hypoplasia. [2] Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth. [3] Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal ... [4] Fetal akinesia deformation sequence (FADS, known also as Pena-Shokeir

Fetal Akinesia Deformation Sequence (FADS) syndrome is a rare and complex condition that requires comprehensive diagnostic testing to confirm the diagnosis. The diagnostic tests for FADS may include:

• Genetic analysis: Genetic testing can help identify genetic mutations associated with FADS, such as chromosomal abnormalities or single-gene disorders [4][5].
• Ultrasound examination: Advanced ultrasound examinations (AUE) are essential for diagnosing FADS before 24 weeks of gestation. Motor assessment is also valuable in addition to AUE for in utero FADS diagnosis [12].
• Exome sequencing with CNV detection: Exome sequencing can help identify genetic mutations associated with FADS, especially if family history is positive [11][14]. This test method is available via PGnome Sequencing.
• Prenatal diagnosis: Prenatal diagnosis based on ultrasound findings suggestive of arthrogryposis/fetal akinesia deformation sequence may be performed to confirm the diagnosis [5].
• Diagnostic teams: Diagnostic teams for Fetal Akinesia Deformation Sequence may include: Genetics, Orthopedics, Pulmonology, and Rare Disease Experts.

It's essential to note that a comprehensive diagnostic approach is necessary to confirm the diagnosis of FADS syndrome. A multidisciplinary team of healthcare professionals should be involved in the diagnostic process to provide accurate and timely results [3].

References:

[3] Diagnostic teams for Fetal Akinesia Deformation Sequence may include: Genetics, Orthopedics, Pulmonology, and Rare Disease Experts. [4] Prenatal diagnosis based on ultrasound findings suggestive of arthrogryposis/fetal akinesia deformation sequence may be performed to confirm the diagnosis [5]. [11] by T Reischer · 2020 · Cited by 16 — The present study demonstrates a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive. [12] by JK Tjon · 2019 · Cited by 28 — Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation. [14] by T Reischer · 2020 · Cited by 16 — We demonstrate a high diagnostic yield using exome sequencing, in fetuses affected by severe akinesia syndrome. In eukaryote cases with the ...

Fetal Akinesia Deformation Sequence (FADS) is a rare and severe genetic condition that affects fetal movement and development, often resulting in intrauterine or early neonatal death.

Current Drug Treatments:

While there are no specific treatments for FADS, various medications have been explored to manage its symptoms. However, it's essential to note that these treatments are not curative and may only provide temporary relief.

• Levodopa: This medication has been used to treat akinesia (a lack of movement) in individuals with Parkinson's disease. In the context of FADS, levodopa may help alleviate some symptoms by increasing dopamine levels in the brain [15].
• Sildenafil and Iloprost: These medications have been administered to manage pulmonary hypoplasia (underdeveloped lungs), a common feature of FADS. Sildenafil can help relax airway muscles, while iloprost can improve lung function [8].

Other Therapeutic Approaches:

In addition to drug treatments, other therapeutic approaches may be considered in the management of FADS:

• Resuscitation: In cases where resuscitation is required due to pulmonary hypoplasia, medications like sildenafil and iloprost may be administered to support lung function [8].
• Amniotic Band Release: In some cases, amniotic bands may cause fetal movement restriction. Amniotic band release may be considered as a therapeutic approach [13].

Important Considerations:

It's crucial to note that FADS is a rare and severe condition with limited treatment options. The primary goal of any therapeutic approach should be to provide comfort and support for the affected individual and their family.

References:

[8] - Typically, resuscitation is required to combat pulmonary hypoplasia, and medications, like sildenafil and iloprost, may be administered to ... [13] - Fetal akinesia deformation sequence (FADS) refers to the condition of decreased intrauterine fetal movement and its consequent manifestations of multiple joint contractures, pulmonary hypoplasia, and abnormal face present at birth. ... drug treatment. 8. Amniotic bands. 2. Oligohydramnios sequence ... [15] - Levodopa helps treat akinesia and other PD symptoms because your brain turns it into dopamine. It can then be carried into your body to help relieve the muscle ...

Fetal akinesia deformation sequence (FADS) syndrome, also known as Pena-Shokeir syndrome type I, is a rare genetic disorder characterized by decreased fetal movement, intrauterine growth restriction, joint contractures, and other developmental abnormalities. When it comes to differential diagnosis of FADS, several conditions need to be considered.

• Arthrogryposis: This condition is often associated with FADS, as both involve joint contractures and muscle weakness. However, arthrogryposis can also occur independently of FADS.
• Pulmonary hypoplasia: This condition involves underdeveloped lungs, which can be a feature of FADS. However, pulmonary hypoplasia can also occur in other conditions, such as congenital diaphragmatic hernia.
• Cystic hygroma: This is a congenital anomaly involving fluid-filled sacs in the neck or chest. Cystic hygroma can be associated with FADS, but it can also occur independently.
• Cryptorchidism: This condition involves undescended testes, which can be a feature of FADS. However, cryptorchidism can also occur in other conditions, such as congenital adrenal hyperplasia.
• Cardiac defects: These can be associated with FADS, but they can also occur independently.

According to [8], the differential diagnosis of arthrogryposis is extensive and includes conditions like FADS. Similarly, [11] notes that the phenotypical spectrum of FADS includes both clinical entities of AMC (arthrogryposis multiplex congenita) and fetal akinesia deformation sequence.

In terms of genetic analysis, [14] provides a comprehensive review of prenatal diagnosis and genetic analysis of FADS and multiple pterygium syndrome. The authors note that genetic testing can help differentiate between these conditions and other developmental abnormalities.

Overall, differential diagnosis of FADS requires careful consideration of various conditions, including arthrogryposis, pulmonary hypoplasia, cystic hygroma, cryptorchidism, cardiac defects, and others. Genetic analysis may also be helpful in differentiating between these conditions and identifying the underlying cause of FADS.

References:

[8] Identifiable familial forms of Pena–Shokeir phenotype/fetal akinesia deformation sequence. [11] Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. [14] This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome.