Divergent boundary definition9/25/2023 Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life. Males with this condition can have undescended testes (cryptorchidism). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). A side-to-side curvature of the spine (scoliosis) is sometimes seen. People with this type may also have arthrogryposis. In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. The weakness soon spreads to all muscles however, within 2 years, the muscle weakness typically stops getting worse. These are the muscles farther from the center of the body, such as muscles in the hands and feet. Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Early features of this condition are difficult and noisy breathing, especially when inhaling a weak cry problems feeding and recurrent episodes of pneumonia. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy.
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