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What is lethal multiple pterygium syndrome?

What is lethal multiple pterygium syndrome?

Lethal multiple pterygium syndrome is characterized by stillbirth or death of an infant shortly after birth. Affected infants usually have underdeveloped lungs, diaphragmatic hernia and abnormalities of the heart, kidneys and brain in addition to webbed skin in multiple areas and contractures.

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.

What kind of disease did pablo Escobar have?

Individuals with multiple pterygium syndrome, Escobar type may also develop a restriction of the joints, known as arthrogryposis, a sideways curve of the spine ( scoliosis ), and distinctive facial features. Males with this condition can have undescended testes (cryptorchidism).

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 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.

Is arthrogryposis a neurological disorder?

The cause is unknown, although arthrogryposis is thought to be related to inadequate room in utero and low amniotic fluid. The patient may have an underlying neurological condition or connective tissue disorder.

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.

Can pterygium be congenital?

A pterygium may occur congenitally and may even be hereditary (Armaignac, 1914). It is suggested that a pterygium may be considered to be a sign of congenital degeneration or disorder of the comeal nerves of the particular segment, leading to degeneration of the overlying layers of the cornea.

What is Larsen syndrome?

Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows.

What is Multiple pterygium syndrome lethal type?

Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers.

What is popliteal pterygium syndrome?

Popliteal pterygium syndrome. Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al..

What is the pathophysiology of pterygium?

It is primarily characterized by the presence of pterygia (or wings) present in two or more body areas overlying predominantly the large joints. Accompanying joint contractures are almost always present. The majority of cases carry an autosomal recessive inheritance while a small proportion of cases may carry an X-linked recessive inheritance.

What are the signs and symptoms of pterygia?

It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. [1] Fetuses with this condition are usually not born.