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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]
Complete androgen insensitivity syndrome; Complex regional pain syndrome; Computer vision syndrome; Conductive deafness-ptosis-skeletal anomalies syndrome; Congenital bilateral perisylvian syndrome; Congenital contractural arachnodactyly; Congenital generalized lipodystrophy; Congenital insensitivity to pain; Congenital myasthenic syndrome
These defects are more likely to be unilateral than bilateral, more likely to affect the upper limbs than lower limbs, and are associated with complex genetic syndromes about 10% of the time. [ 3 ] A wide variety of abnormalities of the hands and feet, including the nails and the creases of the hand, have been described and differentiated. [ 4 ]
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 ...
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.
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 ...
A vascular anomaly is any of a range of lesions from a simple birthmark to a large tumor that may be disfiguring. They are caused by a disorder of the vascular system . [ 1 ] A vascular anomaly is a localized defect in blood vessels or lymph vessels .
[4] [12] It is the most common complex congenital heart defect, accounting for about 10 percent of cases. [ 13 ] [ 14 ] It was initially described in 1671 by Niels Steensen . [ 1 ] [ 15 ] A further description was published in 1888 by the French physician Étienne-Louis Arthur Fallot , after whom it is named.