What is Autosomal recessive multiple pterygium syndrome / Escobar syndrome
Autosomal recessive multiple pterygium syndrome / Escobar syndrome description. Find out what Autosomal recessive multiple pterygium syndrome / Escobar syndrome is and know more about it.
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 (pterygium), and facial anomalies. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for the syndrome to manifest in their child.
Individuals with this syndrome typically have limited mobility due to the joint contractures, which can affect various joints in the body. The pterygia, or webbing, can be present on the neck, elbows, knees, and other areas, leading to restricted movement and potential complications.
Facial features associated with Autosomal recessive multiple pterygium syndrome may include a small mouth, a short neck, a flat nasal bridge, and widely spaced eyes. Other possible symptoms include scoliosis, clubfoot, and respiratory difficulties.
Diagnosis of Autosomal recessive multiple pterygium syndrome is based on clinical evaluation, genetic testing, and imaging studies. Treatment focuses on managing the symptoms and may involve physical therapy, orthopedic interventions, and surgical procedures to improve joint mobility and correct deformities.
