tetraamelia syndrome 2

What is Tetra-amelia Syndrome 2?

Tetra-amelia syndrome 2 (TETAMS2) is a rare and severe congenital disorder characterized by the absence or significant malformation of all four limbs. This condition is also known as tetraamelia syndrome-2.

Key Features:

• Absence or Malformation of Limbs: TETAMS2 is typically characterized by the complete absence or rudimentary development of both arms and legs, usually symmetrically.
• Bilateral Agenesis of Lungs: The lungs are often underdeveloped or completely absent in individuals with TETAMS2, which can lead to breathing difficulties or respiratory failure.
• Abnormalities of Pulmonary Vasculature: There are abnormalities in the blood vessels that supply the lungs, which can further complicate respiratory function.
• Dysmorphic Features: Individuals with TETAMS2 often exhibit dysmorphic features, including:
  • Bilateral cleft lip/palate
  • Ankyloglossia (tongue-tie)
  • Mandibular hypoplasia (underdeveloped jawbone)
  • Microretrognathia (small-sized lower jaw)
  • Labioscrotal fold aplasia (absence of the folds that connect the scrotum to the labia)

Other Associated Features:

• Heart Abnormalities: Individuals with TETAMS2 may have heart defects, such as defects in the walls between the chambers of the heart.
• Renal and Adrenal Agenesis: The kidneys and adrenal glands may be underdeveloped or absent.
• Pelvic Hypoplasia: The pelvis may be underdeveloped.
• Urogenital Defects: There may be defects in the urogenital system.

Genetic Basis:

TETAMS2 is caused by mutations in the RSPO2 gene on chromosome 8q23. This genetic mutation leads to the development of this severe congenital disorder.

It's essential to note that TETAMS2 is a rare and complex condition, and each individual may exhibit unique features.

Characteristics of Tetra-Amelia Syndrome Type 2

Tetra-amelia syndrome type 2, also known as TETAMS2, is a rare congenital disorder characterized by severe malformations. The signs and symptoms of this condition include:

• Complete absence or rudimentary appendages: Individuals with tetra-amelia syndrome type 2 may be born without limbs or have severely underdeveloped limbs.
• Bilateral agenesis of the lungs: This condition is often associated with the complete absence or severe malformation of both lungs, which can lead to breathing difficulties or respiratory failure.
• Abnormalities of the pulmonary vasculature: The blood vessels in the lungs may be affected, leading to complications such as pulmonary hypertension.
• Dysmorphic features: Individuals with tetra-amelia syndrome type 2 often have facial abnormalities, including:
  • Bilateral cleft lip/palate
  • Ankyloglossia (tongue tied)
  • Mandibular hypoplasia (underdeveloped jawbone)
  • Microretrognathia (small-sized lower jaw)
  • Labioscrotal fold aplasia (absence of the folds between the labia and scrotum)

These symptoms can vary in severity and may be accompanied by other complications, such as heart defects or gastrointestinal problems.

References:

• [3] Tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations.
• [5] Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs.
• [13] Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labiosc

Based on the provided context, here are some diagnostic tests associated with Tetra-amelia syndrome 2:

• Clinical Molecular Genetics test: This test is used to diagnose Tetra-amelia syndrome 1 and Tetra-amelia syndrome 2. It involves Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics [1].
• WNT3 gene testing: Mutations in the WNT3 gene are associated with Tetra-amelia syndrome 2. Testing of this gene can help diagnose the condition [12].
• Clinical Genetic Test: This test is offered by Intergen for conditions, including Tetraamelia syndrome 1 and Tetraamelia syndrome 2. It involves Next-Generation (NGS)/Massively parallel sequencing (MPS) of the WNT3 gene [15].

It's worth noting that Tetra-amelia syndrome 2 is a rare condition, and diagnostic tests may not be widely available or standardized. However, these tests can provide valuable information for diagnosis and management of the condition.

References: [1] - Clinical Molecular Genetics test for Tetraamelia syndrome 1 and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics. [12] - The diagnosis of tetra-amelia syndrome can be established clinically and is usually made on routine prenatal ultrasonography. WNT3 is the only gene in which mutations have been associated with this condition. [15] - Clinical Genetic Test offered by Intergen for conditions (1): Tetraamelia syndrome 1; Testing genes (1): WNT3 (17q21.31-21.32); Methodology includes Next-Generation (NGS)/Massively parallel sequencing (MPS).

Based on the provided context, it appears that Tetra-amelia syndrome type 2 (TAS2) is a rare congenital disorder characterized by the absence of both lungs and heart abnormalities.

Regarding drug treatment for TAS2, there is limited information available in the search results. However, I can provide some general insights based on the context:

• There is no cure for Tetra-Amelia Syndrome, including type 2 (TAS2) [12].
• Treatment focuses on managing symptoms and improving quality of life [12].

It's essential to note that drug treatment for TAS2 may not be a primary focus, as the condition is often incompatible with life due to the absence of both lungs. However, if adequate assistance is provided, isolated tetra-amelia without associated abnormalities can be compatible with life [5].

In cases where individuals with TAS2 require medical management, it's likely that treatment would involve managing symptoms related to heart abnormalities and other associated malformations, rather than targeting the condition itself.

Some possible areas of focus for drug treatment in TAS2 might include:

• Managing cardiac defects and anomalies
• Addressing respiratory issues (although this may be challenging due to the absence of both lungs)
• Treating other associated malformations and symptoms

However, it's crucial to consult with a healthcare professional for medical advice and guidance on potential treatment options. The National Organization for Rare Disorders (NORD) and Orphanet provide resources and information on rare disorders, including Tetra-Amelia Syndrome [11][13].

References:

[5] by A Loughnan · 2020 · Cited by 1 — Isolated tetra‐amelia without associated abnormalities is compatible with life if adequate assistance is provided. [12] There are two types of the syndrome, with type 1 showing severe gastrointestinal issues and type 2 involving the absence of both lungs and heart abnormalities. [13] Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources.

Differential Diagnosis of Tetraamelia Syndrome 2

Tetraamelia syndrome 2 (TETAMS2) is a rare genetic disorder characterized by the absence or severe malformation of all four limbs, along with other associated anomalies. When diagnosing TETAMS2, it's essential to consider the differential diagnosis, which includes other conditions that may present similar symptoms.

Conditions in the Differential Diagnosis:

• Roberts syndrome—SC phocomelia (OMIM 268300): A rare autosomal recessive disorder characterized by limb reduction defects, among other features. [9]
• Sirenomelia (mermaid syndrome): A rare congenital disorder where the legs are fused together, often with other associated anomalies. [5]
• Congenital limb amputation: A condition where one or more limbs are absent at birth. [5]

Other Associated Anomalies:

In addition to the absence or severe malformation of all four limbs, TETAMS2 may also be characterized by:

• Bilateral agenesis of the lungs
• Abnormalities of the pulmonary vasculature
• Dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia [12]

Importance of Accurate Diagnosis:

Accurate diagnosis of TETAMS2 is crucial for providing appropriate medical care and management. A comprehensive understanding of the differential diagnosis and associated anomalies can help healthcare professionals make an informed decision about the patient's condition.

References:

[5] Aug 20, 2024 — Differential diagnosis. Imaging differential considerations include 2: congenital limb amputation · phocomelia · sirenomelia (mermaid syndrome) ... [9] by SB Sousa · 2008 · Cited by 47 — One of the conditions in the differential diagnosis is Roberts syndrome—SC phocomelia (OMIM 268300), a well known disorder inherited in an ... [12] Tetraamelia syndrome-2. ... (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.