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Shone’s syndrome is a rare disorder that is often detected in very young children. The children tend to show symptoms like fatigue, nocturnal cough, and reduced cardiac output by the age of two years. They also develop wheezing due to the exudation of fluid into the lungs. [1]
The most severe cases, often called cyclopia-holoprosencephaly complex, are almost invariably lethal, and patients show intrauterine growth restriction, prematurity, and impaired ventilation. Endotracheal intubation is difficult due to severe airway malformations, and only approximately 7 non-holoprosencephaly patients have survived beyond infancy.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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Mallory–Weiss syndrome; Malnutrition–inflammation complex; Malouf syndrome; Malpuech facial clefting syndrome; Management of chronic headaches; Manning criteria; Marchiafava–Bignami disease; Marden–Walker syndrome; Mare reproductive loss syndrome; Marfan syndrome; Marfanoid–progeroid–lipodystrophy syndrome; Marie Antoinette syndrome