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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]
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
Fetal alcohol syndrome; First arch syndrome; Focal femoral hypoplasia; Gastrointestinal atresia; Gastroschisis; Holoprosencephaly; Hydranencephaly; Hydronephrosis; Hydrops fetalis; Hypoplastic left heart syndrome; Infantile polycystic kidney disease; Iniencephaly; Intracranial teratoma; Intrauterine growth retardation; Klippel–Trénaunay ...
Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.
CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few. 'CLOVES' is an acronym for: [2] [3] C is for congenital. L is for lipomatous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most ...
The Cat eye syndrome (CES), also termed the Schmid–Fraccaro syndrome, is a severe disorder in which individuals have multiple birth defects such as congenital heart abnormalities, renal malformations, craniofacial anormalies, male genital anomalies, skeleton defects, borderline to moderately severe mental retardation, and cat-like downward ...
There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [1] Most patients with this karyotype are known to have abnormal gonadal histology and heights considerably below their genetic potential.
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...