fetal akinesia deformation sequence syndrome 3

Fetal Akinesia Deformation Sequence (FADS) Syndrome 3, also known as Fetal Akinesia Deformation Sequence-3 (FADS3), is a rare and severe congenital disorder. It is characterized by a combination of physical abnormalities and developmental issues.

Key Features:

• Intrauterine growth retardation: Affected individuals may experience slow growth in the womb, leading to low birth weight.
• Joint contractures: FADS3 is often associated with joint stiffness or contractures, which can affect multiple joints.
• Short gait: Individuals with FADS3 may have a shorter-than-average stride length due to joint contractures and muscle weakness.
• Pulmonary hypoplasia: Underdeveloped lungs can lead to breathing difficulties and other respiratory problems.

Genetic Cause: FADS3 is caused by mutations in the DOK7

Fetal Akinesia Deformation Sequence (FADS) Syndrome Signs and Symptoms

Fetal Akinesia Deformation Sequence (FADS) syndrome, also known as Pena-Shokeir syndrome type I, is a rare genetic disorder characterized by a range of severe physical abnormalities. The signs and symptoms of FADS syndrome can vary in severity and may include:

• Intrauterine growth retardation: This refers to slow or restricted fetal growth during pregnancy.
• Joint contractures: Also known as arthrogryposis, this condition involves stiffness or rigidity of the joints, making it difficult for the fetus to move normally.
• Short gait: Infants born with FADS syndrome may have a shorter-than-normal stride length due to joint contractures and other physical abnormalities.
• Short umbilical cord: The umbilical cord is typically longer than 55 cm in most fetuses. A short umbilical cord can be an indicator of FADS syndrome.
• Pulmonary hypoplasia: This condition involves underdevelopment of the lungs, which can lead to breathing difficulties and other respiratory problems after birth.

These physical abnormalities are often accompanied by a range of other symptoms, including:

• Micrognathia: A small lower jaw or chin
• Hypertelorism: An abnormally wide space between the eyes
• Telecanthus: Abnormally wide-set eyes
• Poorly folded ears: Ears that are not properly formed or folded
• Cleft palate: A split in the roof of the mouth

It's essential to note that FADS syndrome is a rare and severe condition, and these symptoms may vary in severity from one individual to another.

Based on the provided context, diagnostic tests for Fetal Akinesia Deformation Sequence (FADS) Syndrome 3 may include:

• Exome Sequencing with CNV Detection [7]
• Ultrasound examination to detect features such as joint contractures, facial anomalies, and pulmonary hypoplasia [2-4]
• Genetic counseling and testing to identify underlying genetic causes [10]

It's worth noting that the diagnostic process for FADS can be challenging due to its heterogeneous nature and varied expressions. A multidisciplinary team including genetics, orthopedics, pulmonology, and rare disease experts may be involved in the diagnosis and management of this condition [10].

Additionally, exome sequencing has been shown to have a high diagnostic yield in fetuses affected by severe akinesia syndrome, especially if there is a positive family history [4]. This test can help identify genetic mutations that may be contributing to the condition.

References: [2-4] - These search results mention ultrasound examination as a tool for detecting FADS features. [7] - Exome Sequencing with CNV Detection is mentioned as a diagnostic test. [10] - A multidisciplinary team and diagnostic tests are listed.

Fetal akinesia deformation sequence (FADS) syndrome, also known as Pena-Shokeir syndrome type I, is a rare genetic disorder characterized by decreased intrauterine fetal movement and its consequent manifestations. The differential diagnosis of FADS involves considering various conditions that may present with similar symptoms.

Some of the key factors to consider in the differential diagnosis of FADS include:

• Arthrogryposis: A condition characterized by multiple joint contractures, which can be a feature of FADS.
• Pulmonary hypoplasia: Underdeveloped lungs, which can be associated with FADS.
• Cleft palate: A congenital defect in the roof of the mouth, which can be present in individuals with FADS.
• Cryptorchidism: Undescended testes, which can be a feature of FADS.

According to [3], the differential diagnosis of arthrogryposis is extensive and includes conditions such as FADS. A study by Hall and Kiefer [12] also highlights the importance of considering FADS in the differential diagnosis of arthrogryposis.

In addition, a review of FADS by Reischer et al. [6] notes that the condition can be characterized by craniofacial anomalies, which may need to be considered in the differential diagnosis.

It's worth noting that the differential diagnosis of FADS is complex and requires careful consideration of various factors. A comprehensive evaluation by a qualified healthcare professional is essential for accurate diagnosis and management.

References:

[3] The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary ... [3] [6] In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia. [6] [12] Arthrogryposis as a syndrome: gene ontology analysis. Mol Syndromol. 2016; 7:101-109. Crossref. Scopus (79) PubMed. Google Scholar. [12]