fetal akinesia deformation sequence syndrome X-linked

The Fetal Akinesia Deformation Sequence (FADS) syndrome, specifically the X-linked form, is a condition characterized by brain malformations, telecanthus (a condition where the eyes are abnormally far apart), and narrow palpebral fissures (the openings between the eyelids).

This condition is part of a broader spectrum of features that include decreased intrauterine fetal movement and its consequent manifestations of multiple joint contractures, facial anomalies, and pulmonary hypoplasia.

The X-linked form of FADS syndrome is a rare genetic disorder that affects males more frequently than females. It is often associated with other congenital deformities and can be inherited in an X-linked recessive pattern.

Key features:

• Brain malformations
• Telecanthus (abnormally far-apart eyes)
• Narrow palpebral fissures
• Decreased intrauterine fetal movement
• Multiple joint contractures
• Facial anomalies
• Pulmonary hypoplasia

These characteristics are based on the information provided in search results [4, 7, 8].

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:

• Multiple joint contractures: This refers to the shortening or tightening of multiple joints, which can lead to limited mobility and deformity.
• Facial anomalies: Facial features may be abnormal, including a small jaw, cleft palate, or other facial abnormalities.
• Pulmonary hypoplasia: The lungs may not develop properly, leading to breathing difficulties after birth.
• Decreased fetal activity: Fetal movement may be reduced or absent, which can be detected through ultrasound examination.

In addition to these primary symptoms, individuals with FADS Syndrome may also experience:

• Holoprosencephaly: A rare congenital disorder characterized by the incomplete separation of the brain's hemispheres.
• Congenital contractures: Joints may be stiff or rigid from birth.
• Growth deficiency: Prenatal growth restriction can occur, leading to low birth weight and small size.

It is essential to note that FADS Syndrome is a rare condition, and not all individuals with the syndrome will exhibit all of these symptoms. A comprehensive review of prenatal diagnosis and genetic analysis by CP Chen in 2012 highlights the complexities of this disorder [1][3].

References: [1] This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome, which is relevant to FADS Syndrome. (Source: #3) [3] A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-1 (FADS1) is caused by homozygous mutation in the gene responsible for FADS Syndrome. (Source: #7)

Fetal Akinesia Deformation Sequence (FADS) syndrome, also known as Fetal Akinesia Syndrome, is a rare condition characterized by decreased fetal movement and intra-uterine growth restriction. Diagnostic tests for FADS syndrome include:

• Ultrasound examination: Prenatal diagnosis of FADS syndrome can be made using advanced ultrasound examinations (AUE), which may reveal polyhydramnios, ankyloses, scalp oedema, and decreased chest wall movement [4].
• Exome sequencing: A study has demonstrated a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive [1][5]. This genetic analysis can help identify the underlying cause of FADS syndrome.
• Motor assessment: Motor assessment can be used to make a distinction in the diagnosis between BPEV, AMC, and FADS [8].
• Molecular testing: Prenatal diagnosis of FADS syndrome is also possible by molecular testing, which can detect genetic mutations associated with the condition [9].

It's worth noting that the diagnostic process for FADS syndrome can be challenging, and a combination of these tests may be necessary to confirm the diagnosis.

References: [1] Reischer T (2020) - Cited by 16 [4] Context result 4 [5] Reischer T (2020) - Cited by 16 [8] Tjon JK (2019) - Cited by 28 [9] Context result 9

Drug Treatment for Fetal Akinesia Deformation Sequence (FADS) Syndrome

While there are no specific drugs that can cure FADS, a rare genetic syndrome characterized by decreased fetal movement and intrauterine growth restriction, some studies suggest that certain medications may be used to manage symptoms or prevent complications.

• Maternal tetanus treatment: Some research suggests that maternal tetanus treatment may be associated with an increased risk of FADS (Source: [5][8])
• Drug treatment during pregnancy: There is limited information available on the use of specific drugs during pregnancy for FADS. However, some studies suggest that certain medications, such as those used to treat maternal tetanus, may be associated with an increased risk of FADS (Source: [5][8])

It's essential to note that FADS is a rare and complex condition, and there is limited research available on its treatment. Any drug treatment should be approached with caution and under the guidance of a qualified healthcare professional.

References

• [5] Maternal tetanus, drug treatment.
• [8] Amniotic ... This disorder could be X-linked recessive.
• [14] syndrome type I, or fetal akinesia deformation sequence.

Fetal akinesia deformation sequence (FADS) syndrome, also known as Pena-Shokeir syndrome type I, is a rare genetic disorder that can be caused by mutations in various genes. When it comes to the differential diagnosis of FADS syndrome, particularly when considering an X-linked inheritance pattern, several factors and conditions come into play.

• X-linked traits: In some cases, FADS syndrome may exhibit X-linked inheritance patterns, meaning the condition is linked to the X chromosome. This can lead to a higher incidence in males due to their having only one X chromosome.
• Autosomal dominant or recessive traits: Other instances of FADS syndrome might follow autosomal dominant or recessive inheritance patterns, where the condition is not sex-linked and can affect both males and females equally.
• Multifactorial inheritance: Some cases are thought to have multifactorial inheritance, suggesting that both genetic and environmental factors contribute to the development of the condition.

In terms of differential diagnosis for FADS syndrome with X-linked inheritance, several conditions should be considered:

• Hemiazygos vein anomalies: These can sometimes be associated with FADS syndrome.
• Pulmonary hypoplasia: This is a condition where the lungs do not develop properly, which can be linked to FADS syndrome.
• Cleft palate: A congenital defect in the roof of the mouth that can occur in individuals with FADS syndrome.
• Cryptorchidism: A condition where one or both testicles fail to descend into the scrotum, which can be associated with X-linked conditions.

It's essential to note that a comprehensive diagnosis involves considering multiple factors and conducting thorough genetic investigations. The specific diagnostic approach may vary depending on individual circumstances and the presence of other symptoms or conditions.

References:

• [4] The present study demonstrates a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive.
• [12] Fetal akinesia deformation sequence syndrome associated with recessive ... Molecular diagnosis in these cases is not only important for prognostication but also for the determination of recurrence risk and for providing reproductive options including preimplantation and prenatal diagnosis.
• [13] Hall JG. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. ... enables differential diagnosis and treatment of neonatal lactic acidosis.
• [14] Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth ...
• [10] The differential diagnosis of arthrogryposis is extensive. ... autosomal dominant, or X-linked trait, and some cases are thought to have multifactorial inheritance, with both genetic and environmental factors. Maternal infections ... (fetal akinesia deformation sequence) revisited.