Matthew–Wood syndrome

Matthew-Wood syndrome is a rare genetic disorder characterized by a range of developmental and physical anomalies. It is associated with mutations in the STRA6 gene, which plays a crucial role in the Vitamin A signaling pathway, essential for normal development and function of the eyes, heart, lungs, and diaphragm.

Symptoms and Characteristics

Matthew-Wood syndrome presents with a spectrum of clinical manifestations, including but not limited to:

• Anophthalmia or microphthalmia, which refers to the absence or underdevelopment of one or both eyes.
• Pulmonary hypoplasia, a condition where the lungs are underdeveloped.
• Congenital heart defects, which can vary in severity and type.
• Diaphragmatic hernia, where there is an abnormal opening in the diaphragm, allowing abdominal organs to move into the chest cavity.
• Developmental delay and potential intellectual disability.

Genetics

The syndrome is caused by mutations in the STRA6 gene, which encodes a receptor involved in the uptake of Vitamin A into cells, a critical factor for the normal development of various organs. Matthew-Wood syndrome 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 by the disorder.

Diagnosis

Diagnosis of Matthew-Wood syndrome is based on clinical evaluation and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the STRA6 gene.

Management and Treatment

There is no cure for Matthew-Wood syndrome, and treatment is symptomatic and supportive. Management may include:

• Surgical interventions for congenital anomalies such as heart defects or diaphragmatic hernia.
• Use of prosthetic devices for individuals with anophthalmia or microphthalmia.
• Regular monitoring and supportive care for respiratory and cardiac issues.

Prognosis

The prognosis for individuals with Matthew-Wood syndrome varies depending on the severity of the symptoms and the presence of life-threatening congenital anomalies. Early diagnosis and management of symptoms can improve the quality of life for affected individuals.