autosomal recessive multiple pterygium syndrome

Autosomal recessive multiple pterygium syndrome is a rare congenital disorder affecting the musculoskeletal and craniofacial systems. It is characterized by joint contractures, unique facial features, and pterygium, with symptoms present from birth. Pathogenic variants in the CHRNG gene disrupt normal neuromuscular development, and the condition is inherited in an autosomal recessive pattern. This condition is very rare, affecting fewer than 1 in 1 million people.

The clinical presentation of autosomal recessive multiple pterygium syndrome includes several defining features that are consistently observed at birth. Almost all affected individuals present with camptodactyly, cryptorchidism, ptosis, arthrogryposis multiplex congenita, downslanted palpebral fissures, decreased fetal movement, knee flexion contracture, downturned corners of the mouth, and pterygium. In addition, many exhibit features such as short stature, arachnodactyly, high palate, and a rocker bottom foot, while some may have thoracolumbar scoliosis, low-set ears, multiple joint contractures, and neonatal respiratory distress. Not all individuals experience all features, and severity varies considerably.

Autosomal recessive multiple pterygium syndrome is caused by pathogenic variants in the CHRNG gene, which encodes a critical subunit of the acetylcholine receptor involved in neuromuscular signaling. Disruption of this gene affects normal muscle and joint development, leading to the characteristic clinical features of the condition. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited a mutated copy of the gene from each parent. It is more common when parents share a common ancestor, as there is an increased likelihood that both carry the same rare genetic variant. Genetic counseling is recommended for families to understand the inheritance pattern and implications for future family planning.

Currently, management focuses on supportive care and symptom management, with treatment tailored to each individual. A multidisciplinary team is essential, with intervention strategies including physical and occupational therapy to optimize mobility and function, as well as regular surveillance to monitor for any emerging complications. While there are no FDA-approved treatments specific to this condition, patients should work closely with their healthcare team and consider genetic counseling to discuss available supportive care options.

Outcomes for individuals with autosomal recessive multiple pterygium syndrome vary widely depending on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals manage their symptoms into adulthood and experience an overall improved quality of life, although the course of the condition can differ markedly from one person to another. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to consider genetic counseling to better understand potential implications for family planning.

Clinical trials are underway exploring new treatment approaches for autosomal recessive multiple pterygium syndrome. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.