What is the prevalence of Autosomal recessive multiple pterygium syndrome / Escobar syndrome?
How many people does Autosomal recessive multiple pterygium syndrome / Escobar syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
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, and facial anomalies. The prevalence of this syndrome is estimated to be very low, with only a few hundred cases reported worldwide. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Due to its rarity, early diagnosis and genetic counseling are crucial for affected individuals and their families.
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, and facial anomalies. It is caused by mutations in the CHRNG gene, which is involved in the development of the neuromuscular junction.
The prevalence of Autosomal recessive multiple pterygium syndrome is difficult to determine due to its rarity and the lack of comprehensive data. However, it is estimated to affect approximately 1 in 300,000 to 1 in 500,000 individuals worldwide. The syndrome has been reported in various populations and ethnicities, suggesting that it is not specific to any particular group.
Individuals with Autosomal recessive multiple pterygium syndrome may experience a range of symptoms, including joint contractures, scoliosis, facial clefts, clubfoot, and respiratory difficulties. The severity of the condition can vary widely, even among affected individuals within the same family.
Diagnosis of Autosomal recessive multiple pterygium syndrome is typically based on clinical evaluation, physical examination, and genetic testing. Management of the syndrome involves a multidisciplinary approach, including orthopedic interventions, physical therapy, and surgical procedures to address specific symptoms and improve quality of life.
Although Autosomal recessive multiple pterygium syndrome is a rare disorder, early diagnosis and appropriate medical care can significantly improve the prognosis and quality of life for affected individuals.
