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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]
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
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
This causes only one side of the heart to be capable of pumping blood to the body and lungs effectively. Hypoplasia of the heart is rare but is the most serious form of CHD. It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome when it
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13 , the physical and mental manifestations will vary.
Treatment of kaposiform hemangioendothelioma is therefore medical. The primary drug is interferon alfa, which is successful in 50% of children. [10] Another option is vincristine, which has many side-effects, but has a response rate of 90%. Drug therapy is often used in shrinking the tumor and treating the coagulopathy.
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
Jeune syndrome is a rare genetic disorder that affects the way a child's cartilage and bones develop. It begins before the child is born and primarily affects the child's rib cage, pelvis, arms and legs. [5] Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome.