Multiple pterygium syndrome lethal type

Multiple Pterygium Syndrome, Lethal Type (MPSLT), also known as Lethal Multiple Pterygium Syndrome (LMPS), is a rare genetic disorder characterized by the presence of multiple pterygia (webs of skin) across various parts of the body, alongside other congenital anomalies. This condition falls under the broader category of Fetal Akinesia Deformation Sequence (FADS), due to its association with decreased fetal movement.

Etiology

MPSLT is primarily 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. The condition has been linked to mutations in several genes, including the CHRNA1, CHRNG, and CHRND genes, which are involved in the development and function of the neuromuscular junction.

Pathophysiology

The pathogenesis of MPSLT involves the disruption of normal neuromuscular development, leading to multiple pterygia (fetal akinesia), joint contractures (arthrogryposis), and other skeletal muscle anomalies. The lack of fetal movement is a critical factor in the development of the syndrome's characteristic features.

Clinical Features

The clinical presentation of MPSLT includes:

• Multiple pterygia (neck, antecubital, popliteal, fingers, and toes)
• Facial anomalies (cleft palate, micrognathia, low-set ears)
• Lung hypoplasia leading to respiratory difficulties
• Fetal growth restriction
• Cystic hygroma
• Hydrops fetalis

Diagnosis

Diagnosis of MPSLT is primarily based on prenatal ultrasound findings, which may reveal decreased fetal movements, multiple pterygia, and joint contractures. Postnatal diagnosis involves a physical examination and genetic testing to identify mutations in the associated genes.

Management

Management of MPSLT is supportive and focuses on the specific symptoms present in each individual. Due to the severe nature of the condition, most management efforts are palliative. In cases where MPSLT is diagnosed prenatally, parents may be offered genetic counseling to discuss the prognosis and potential outcomes.

Prognosis

The prognosis for individuals with MPSLT is poor, with most affected fetuses being stillborn or dying shortly after birth due to respiratory failure or other complications.

See Also

• Fetal Akinesia Deformation Sequence
• Arthrogryposis
• Genetic Disorders
• Autosomal Recessive Inheritance

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