What causes escobar syndrome?

What causes escobar syndrome?

Multiple pterygium syndrome, Escobar variant (MPSEV) is a rare congenital condition, which is inherited with an autosomal recessive pattern. It has an unknown incidence but is more common among children from consanguineous relationships. It is caused by a mutation in the CHRNG gene, on chromosome 2q.

What is escobars syndrome?

Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity.

Why is it called Escobar Syndrome?

It however got its name Escobar syndrome in 1982 after Escobar[2] who along with his associates prepared an extensive report on this disease in 1978. The genetic defect of this condition has been identified as the gamma subunit of the nicotinic acetylcholinergic receptor.

Is Escobar syndrome fatal?

The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.

Did Pablo Escobar sleep?

Pablo, who never went to bed before dawn, was obsessed with sleeping in his own bed and by 5am he would head off to join his long-suffering wife in the marital home.

What is popliteal pterygium syndrome?

Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip , a cleft palate (an opening in the roof of the mouth), or both.

What is multiple pterygium syndrome?

Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth.

Was Valeria Velez real?

Virginia Vallejo, the real-life inspiration for Valeria Velez, in 1987.

Is popliteal pterygium syndrome a rare disease?

Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300, 000 individuals. Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development.