Pterygium Syndrome

Excerpt

Pterygium syndrome, alternatively called multiple pterygium syndrome (MPS), is a rare group of different genetic congenital disorders characterized by numerous webbing (pterygia) of the parts of the body (the neck, axilla, antecubital, elbow, interdigital, and popliteal regions), multiple joint contractures (arthrogryposis), and skeletal abnormalities or deformities.

Two clinically and genetically different variants of multiple pterygium syndrome exist prenatally, lethal and nonlethal (Escobar) subtypes. The lethal subtype is most severe and diagnosed prenatally with fetal ultrasound during the second trimester with multiple pterygia, hygroma colli, and sometimes stillbirth. The nonlethal variant is Escobar syndrome, which includes numerous pterygia, joint contractures, and distinctive facial features.