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A congenital heart defect is classed as a cardiovascular disease. [10] Signs and symptoms depend on the specific type of defect. [3] Symptoms can vary from none to life-threatening. [7] When present, symptoms are variable and may include rapid breathing, bluish skin , poor weight gain, and feeling tired. [2] CHD does not cause chest pain. [2]
Symptoms: Neural tube defects, distinctive facial features, congenital heart defects, limb abnormalities, developmental delays, autism spectrum disorder [1] [2] [3] Complications: Intellectual disability, cognitive impairments, physical disabilities: Usual onset: Prenatal: Duration: Lifelong: Causes: Prenatal exposure to valproic acid (VPA ...
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
[87] [12] Symptoms of these diseases include an unusually high rate of breathing (tachypnea), a blue hue to the skin (cyanosis), wheezing, a rapid heartbeat (tachycardia), and/or an abnormally enlarged liver, which are similar to those of other congenital heart problems (hepatomegaly).
There are many signs associated with autism; the presentation varies widely. Common signs and symptoms include: [81] [82] Abnormalities in eye contact; Little or no babbling as an infant; Not showing interest in indicated objects; Delayed language skills (e.g., having a smaller vocabulary than peers or difficulty expressing themselves in words)
The severity of symptoms depends on the type of TGV, and the type and size of other heart defects that may be present (ventricular septal defect, atrial septal defect, or patent ductus arteriosus). Most babies with TGA have blue skin color (cyanosis) in the first hours or days of their lives, since dextro-TGA is the more common type.
Anomalous left coronary artery from the pulmonary artery (ALCAPA, Bland-White-Garland syndrome or White-Garland syndrome) is a rare congenital anomaly occurring in approximately 1 in 300,000 liveborn children. The diagnosis comprises between 0.24 and 0.46% of all cases of congenital heart disease. [1]