fetal akinesia deformation sequence syndrome 2

Fetal Akinesia Deformation Sequence (FADS) Syndrome 2, also referred to as Fetal Akinesia Deformation Sequence 2 or FADS2, is a genetically and clinically diverse disorder. It is characterized by impaired fetal movement, intrauterine growth restriction, and various physical abnormalities.

Clinical Features:

• Impaired fetal movement
• Intrauterine growth restriction (IUGR)
• Multiple joint contractures
• Facial anomalies
• Pulmonary hypoplasia

Genetic Heterogeneity: FADS2 is a clinically and genetically heterogeneous disorder, meaning that it can be caused by different genetic mutations. The condition may be inherited in an autosomal recessive manner in some cases.

Phenotypic Overlap: There is phenotypic overlap between FADS2 and other conditions, including the lethal form of multiple pterygium syndrome (MPS). However, FADS2 is a distinct entity with its own set of clinical features.

Incidence: The exact incidence of FADS2 is unknown. However, it is estimated to be relatively rare compared to other congenital disorders.

Prognosis: Unfortunately, the prognosis for individuals affected by FADS2 is generally poor. Many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. About 30% of affected individuals are stillborn.

References: * [1] Vogt et al., 2009 - Describes FADS as a clinically and genetically heterogeneous constellation of features. * [7] Fetal Akinesia Deformation Sequence 2 (FADS2) is a genetically and clinically diverse disorder characterized by impaired fetal movement, intrauterine growth restriction, and various physical abnormalities. * [10] It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. * [13] It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. * [14] The term fetal akinesia represents a category of disorders within a broad spectrum of diseases leading to reduced or absent fetal movements.

Fetal Akinesia Deformation Sequence (FADS) Syndrome 2, also known as Pena-Shokeir Syndrome Type II, is a rare genetic disorder that affects the development of the fetus. The signs and symptoms of FADS Syndrome 2 can be severe and life-threatening.

Common Signs and Symptoms:

• Decreased fetal movement: One of the earliest signs of FADS Syndrome 2 is decreased or absent fetal movement during pregnancy.
• Intrauterine growth restriction (IUGR): The fetus may not grow at a normal rate, leading to low birth weight.
• Multiple joint contractures: The joints in the arms and legs may be stiff or rigid, making it difficult for the baby to move their limbs.
• Facial anomalies: The face may appear expressionless, with features such as hypertelorism (wide-set eyes), telecanthus (widely spaced eyes), and poorly folded ears.
• Underdevelopment of the lungs: The lungs may not develop properly, leading to respiratory problems after birth.
• Other developmental abnormalities: Other signs and symptoms may include ulnar deviation of the hands, rocker-bottom feet, camptodactyly (flexed fingers), sparse dermal ridges, and absence of palmar flexion creases.

Additional Signs and Symptoms:

• Micrognathia: The jaw may be small or underdeveloped.
• Hypertelorism: The eyes may be widely spaced.
• Telecanthus: The eyes may be widely spaced.
• Poorly folded ears: The ears may appear poorly formed or folded.

Important Note:

FADS Syndrome 2 is a rare and severe condition that can lead to life-threatening complications. If you are pregnant and have concerns about your baby's development, it is essential to consult with a healthcare provider for proper evaluation and care.

References:

• [6] Fetal akinesia deformation sequence-2 (FADS2) is caused by homozygous or compound heterozygous mutation in the RAPSN gene (601592) on chromosome 11p11.
• [10] Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities.
• [11] Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities.
• [12] Ulnar deviation of the hands, rocker-bottom feet, camptodactyly, 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 and poorly folded, small, and posteriorly angulated ears, and the mouth is small with micrognathia and ...

Fetal Akinesia Deformation Sequence (FADS) Syndrome 2, also known as Fetal Akinesia Deformation Sequence 2, is a genetically and clinically diverse disorder characterized by impaired fetal movement, intrauterine growth restriction, and various developmental abnormalities.

Diagnostic Tests:

• Exome Sequencing with CNV Detection: This test can help identify genetic mutations associated with FADS Syndrome 2. It is a comprehensive genetic testing method that analyzes the entire genome for deletions or duplications (CNVs) in addition to point mutations [5].
• Advanced Ultrasound Examinations (AUE): AUE can be used to assess fetal movement and detect potential abnormalities, such as joint contractures and facial anomalies. Motor assessment is also of additional value to AUE for FADS diagnosis before 24 weeks of gestation [4].
• Genetic Panel Testing: This test evaluates specific genes associated with FADS Syndrome 2, including those related to arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome and other developmental anomalies [8].

Other Diagnostic Considerations:

• Prenatal Ultrasound: Prenatal ultrasound can help identify potential fetal abnormalities, such as intrauterine growth restriction, joint contractures, and facial anomalies.
• Fetal MRI: Fetal MRI may be used to further evaluate fetal anatomy and detect potential abnormalities.

It is essential to note that the diagnosis of FADS Syndrome 2 often involves a multidisciplinary approach, including geneticists, obstetricians, and other specialists. A comprehensive diagnostic evaluation will help determine the underlying cause of the condition and guide appropriate management strategies [11].

References:

[4] Tjon, JK (2019). Motor assessment is of additional value to advanced ultrasound examinations for in utero FADS diagnosis before 24 weeks of gestation.

[5] Exome Sequencing with CNV Detection. New York State Approved Test. PANEL AVAILABLE VIA PGnome Sequencing.

[8] Diagnosis of Fetal Akinesia (gene panel) · Distal arthrogryposis type 1 · Sheldon-Hall syndrome · Freeman-Sheldon syndrome · Fetal akinesia deformation sequence.

[11] Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; ... A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.

Current Treatment Options for Fetal Akinesia Deformation Sequence Syndrome 2 (FADS2)

Unfortunately, there are no specific treatments available to cure or reverse the symptoms of Fetal Akinesia Deformation Sequence Syndrome 2 (FADS2). However, various medical interventions can be employed to manage the condition and alleviate its complications.

• Prenatal Management: In cases where FADS2 is suspected during pregnancy, prenatal counseling and management may be recommended. This includes monitoring fetal movement and growth, as well as preparing for potential complications.
• Surgical Interventions: Surgical procedures may be necessary to correct joint contractures, cleft palate, or other developmental anomalies associated with FADS2.
• Pain Management: Pain relief measures are essential to manage discomfort and pain experienced by individuals with FADS2. This can include medication, physical therapy, and other interventions.
• Respiratory Support: Individuals with FADS2 may require respiratory support due to lung hypoplasia or other pulmonary complications.

Current Research and Emerging Therapies

While there are no specific treatments available for FADS2, researchers continue to explore new therapeutic options. Some emerging areas of research include:

• Gene Therapy: Researchers are investigating gene therapy as a potential treatment for FADS2, focusing on correcting the underlying genetic mutations that cause the condition.
• Stem Cell Therapies: Stem cell therapies are being explored as a potential treatment for various aspects of FADS2, including joint contractures and lung hypoplasia.

References

1. [8] Fetal akinesia deformation sequence-2 (FADS2) is caused by homozygous or compound heterozygous mutation in the RAPSN gene (601592) on chromosome 11p11.
2. [13] The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009).
3. [14] Fetal akinesia deformation sequence due to a congenital disorder of glycosylation: charac-teristic features of the fetal akinesia sequence with other unique features, including joint contractures, cataracts, hypotonia, vermian hypoplasia, and consanguinity, which was found to have CDG-DPAGT1 (Ganetzky et al. 2015).

The differential diagnosis for fetal akinesia deformation sequence (FADS) syndrome involves a range of conditions that can present with similar clinical features, such as decreased fetal movement, joint contractures, and facial anomalies. Some of the key differential diagnoses to consider include:

• Pena-Shokeir syndrome type II: This is another form of FADS characterized by similar clinical features, but often with more severe manifestations.
• Arthrogryposis multiplex congenita (AMC): AMC is a condition that presents with multiple joint contractures and can be associated with decreased fetal movement. However, it does not typically involve the same range of facial anomalies as FADS.
• Pulmonary hypoplasia: This is a condition characterized by underdeveloped lungs, which can be associated with decreased fetal movement and other features similar to FADS.
• Cleft palate: Cleft palate is a congenital anomaly that can occur in isolation or as part of a syndrome. It may be associated with decreased fetal movement and other features similar to FADS.
• Cryptorchidism: This is a condition where the testes do not descend into the scrotum, which can be associated with decreased fetal movement and other features similar to FADS.

It's worth noting that the differential diagnosis for FADS can vary depending on the specific clinical presentation and the presence of any additional anomalies. A thorough evaluation by a multidisciplinary team of healthcare professionals is essential to accurately diagnose and manage this condition.

References:

• [2] 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.
• [9] Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and ...
• [15] Fetal akinesia deformation sequence (FADS) is a condition characterised by decreased fetal movement as well as fetal growth restriction, arthrogryposis, facial anomalies, pulmonary hypoplasia, hydrops fetalis and other developmental abnormalities.