Tetraamelia multiple malformations

Tetraamelia Syndrome with Multiple Malformations is a rare genetic disorder characterized by the absence of all four limbs (Tetraamelia) and additional congenital anomalies affecting various parts of the body. This condition is extremely rare and involves a spectrum of malformations that can affect the heart, lungs, brain, spinal cord, and facial features. The severity and combination of malformations vary significantly among affected individuals.

Causes

Tetraamelia Syndrome with Multiple Malformations is caused by genetic mutations. The most well-documented cause involves mutations in the WNT3 gene, which plays a crucial role in the development of limbs and other body parts during embryonic growth. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

The primary symptom of Tetraamelia Syndrome with Multiple Malformations is the complete absence of all four limbs. Additional malformations can include, but are not limited to, facial anomalies such as a cleft lip or palate, absence of external ear structures, heart defects, lung abnormalities, and malformations of the genitourinary system. Neurological involvement may manifest as intellectual disability or developmental delays.

Diagnosis

Diagnosis of Tetraamelia Syndrome with Multiple Malformations is primarily based on physical examination and the presence of characteristic malformations. Prenatal imaging techniques, such as ultrasound and MRI, can identify limb absence and other anomalies before birth. Genetic testing can confirm a diagnosis by identifying mutations in the WNT3 gene or other genes associated with the syndrome.

Treatment

There is no cure for Tetraamelia Syndrome with Multiple Malformations, and treatment focuses on managing symptoms and improving the quality of life for affected individuals. This may involve surgical interventions to correct certain malformations, physical therapy, and the use of prosthetics to enhance mobility and function. Multidisciplinary care from a team of specialists, including pediatricians, orthopedic surgeons, cardiologists, and speech therapists, is essential for addressing the complex needs of these patients.

Prognosis

The prognosis for individuals with Tetraamelia Syndrome with Multiple Malformations varies widely depending on the severity and number of associated malformations. Some individuals may have a relatively normal lifespan with appropriate medical and surgical management, while others may face life-threatening complications at an early age.

See Also

• Genetic disorder
• Congenital anomaly
• Autosomal recessive inheritance

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