Autosomal recessive multiple pterygium syndrome, also known as Escobar syndrome, is a rare genetic disorder characterized by multiple joint contractures (pterygia), webbing of the skin (cutaneous syndactyly), and other distinctive features. This condition is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene in each cell must have mutations for the individual to be affected.
Individuals with autosomal recessive multiple pterygium syndrome typically have multiple joint contractures that restrict movement, particularly in the elbows, knees, and fingers. The skin webbing, or cutaneous syndactyly, is often present between the fingers and toes. Other common features include a small mouth (microstomia), a short neck, a low hairline at the back of the head, and a characteristic facial appearance with widely spaced eyes (hypertelorism).
In addition to these physical features, individuals with this syndrome may also have abnormalities of the spine, such as curvature (scoliosis) or fusion of the vertebrae (hemivertebrae). Some affected individuals may have heart defects, such as a hole between the chambers of the heart (atrial septal defect) or abnormal narrowing of the pulmonary artery (pulmonary stenosis).
Diagnosis of autosomal recessive multiple pterygium syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the responsible gene, known as CHRNG. Prenatal testing is also available for families with a known mutation.
Management of autosomal recessive multiple pterygium syndrome involves a multidisciplinary approach. Treatment may include physical therapy to improve joint mobility, surgical intervention to correct contractures or other skeletal abnormalities, and management of associated health issues. Regular monitoring and follow-up care are important to address the individual's specific needs and optimize their quality of life.