What is Autosomal recessive multiple pterygium syndrome / Escobar syndrome

Autosomal recessive multiple pterygium syndrome, also known as Escobar syndrome, is a rare genetic disorder characterized by multiple pterygia (webbing of the skin) and joint contractures that limit movement. It is a non-lethal form of multiple pterygium syndrome primarily affecting the skeletal, muscular, and respiratory systems from birth.

What are the primary symptoms of Escobar syndrome?

Individuals with Autosomal recessive multiple pterygium syndrome typically present with webbing across the neck, under the arms, and behind the knees. Because of the joint contractures, physical movement and posture are often affected. Common clinical features include:

• Skeletal involvement: Scoliosis (curvature of the spine) and camptodactyly (permanent flexion of the fingers).


• Facial features: Downward-slanting eyes, ptosis (drooping eyelids), and a small jaw (micrognathia).


• Respiratory health: Many infants experience restricted lung capacity due to chest wall deformities.


• Growth: Short stature is frequently observed in patients with Escobar syndrome.

How is Autosomal recessive multiple pterygium syndrome inherited?

As the name suggests, Autosomal recessive multiple pterygium syndrome follows an autosomal recessive inheritance pattern. This means an affected individual must inherit two copies of the mutated gene—one from each parent. The condition is primarily linked to mutations in the CHRNG gene, which provides instructions for building part of a receptor essential for nerve-to-muscle communication.

How common is this condition?

Escobar syndrome is extremely rare, with fewer than 100 cases reported in medical literature worldwide. Because it is so uncommon, it is difficult to determine exact prevalence rates. At DiseaseMaps.org, we currently have two community members who have shared their experiences with Autosomal recessive multiple pterygium syndrome, highlighting the importance of global collaboration for rare disease research.

What differentiates Escobar syndrome from other conditions?

Unlike the lethal forms of multiple pterygium syndrome, Escobar syndrome is generally compatible with survival into adulthood. Intelligence is typically normal, which is a key clinical distinction from other syndromes that present with similar physical contractures.

Next steps

• Consult with a clinical geneticist to confirm the diagnosis through molecular genetic testing.


• Schedule evaluations with orthopedic specialists and physical therapists to manage joint contractures.


• Join the Autosomal recessive multiple pterygium syndrome community on DiseaseMaps.org to connect with other families.


• Discuss respiratory monitoring with a pulmonologist to address potential chest wall limitations.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Multiple pterygium syndrome, Escobar type.


• Orphanet: Escobar syndrome (ORPHA:2648).


• Online Mendelian Inheritance in Man (OMIM): Multiple Pterygium Syndrome, Escobar Type (Entry #265000).