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CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. . Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluati
Chung's areas of expertise include newborn screening, rare genetic neurodevelopment disorders, autism, clinical genetics, developmental disorder, precision medicine, congenital anomaliess, breast cancer, cancer genetics, cardiomyopathy, esophageal atresia/tracheo esophageal atresia, congenital diaphragmatic hernia, congenital heart disease ...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.
[11] [12] [13] Maternal valproate use during pregnancy increased the probability of autism in the offspring compared to mothers not taking valproate from 1.5% to 4.4%. [14] A 2005 study found rates of autism among children exposed to sodium valproate before birth in the cohort studied were 8.9%. [15]
Atrioventricular septal defect (AVSD) is an uncommon congenital heart condition characterized by faulty development of the heart's septa and valves. [88] [12] Congestive heart failure is common in infants with the entire version of the condition. [88] [12] Fluid builds up in other parts of the body, particularly the lungs.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis