Tetra-amelia syndrome

Violetta (Aloisia Wagner)

Tetra-amelia syndrome is a rare congenital disorder characterized by the absence of all four limbs. This condition is also known as autosomal recessive tetra-amelia and is caused by mutations in the WNT3 gene. The syndrome can lead to severe malformations and is often associated with other anomalies affecting the face, head, heart, nervous system, skeleton, and genitalia.

Genetics

Tetra-amelia syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Clinical Features

Individuals with tetra-amelia syndrome are born without arms and legs. Additional features may include:

• Craniofacial abnormalities such as cleft lip or palate
• Micrognathia (small jaw)
• Pulmonary hypoplasia (underdeveloped lungs)
• Cardiac defects
• Genitourinary anomalies
• Gastrointestinal malformations

Diagnosis

Diagnosis of tetra-amelia syndrome is primarily based on clinical evaluation and the identification of characteristic physical findings. Genetic testing can confirm the diagnosis by identifying mutations in the WNT3 gene.

Management

There is no cure for tetra-amelia syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary team including:

• Orthopedic surgeons
• Cardiologists
• Pulmonologists
• Genetic counselors
• Physical therapists

Prognosis

The prognosis for individuals with tetra-amelia syndrome varies depending on the severity of associated anomalies. Many affected individuals have a shortened lifespan due to complications from respiratory, cardiac, or other systemic issues.

Related Pages

• Congenital disorder
• Autosomal recessive inheritance
• WNT3 gene
• Craniofacial abnormalities
• Pulmonary hypoplasia
• Genitourinary anomalies

See Also

• List of congenital disorders
• Genetic counseling
• Physical therapy