Some infants with fetal retinoid syndrome may develop CNS abnormalities, including hydrocephalus, a condition in which accumulation of excessive cerebrospinal fluid (CSF) in the skull causes pressure on the tissues of the brain, resulting in a variety of symptoms. Tetralogy of Fallot consists of a combination of four different heart defects: a ventricular septal defect obstructed outflow of blood from the right ventricle to the lungs due to an abnormal narrowing of the opening between the pulmonary artery and the right ventricle of the heart (pulmonary stenosis) a displaced aorta that causes blood to flow into the aorta from both the right and left ventricles and abnormal enlargement of the right ventricle. Cyanosis is the abnormal bluish discoloration of the skin and mucous membranes (lips and tongue) that occurs due to low levels of circulating oxygen in the blood. Tetralogy of Fallot is a rare form of cyanotic heart disease. In some children, without appropriate treatment, large VSDs may cause life-threatening complications during infancy. If a moderately-sized defect is present, the heart may be unable to pump blood effectively, resulting in an abnormally rapid rate of breathing (tachypnea), wheezing, an unusually fast heartbeat (tachycardia), and/or failure to grow and gain weight at the expected rate (failure to thrive). Small VSDs may close without treatment or become less significant as affected infants mature and grow. The size and location of the defect will determine the severity of symptoms. VSDs are abnormal openings that may occur in any portion of the ventricular septum, the fibrous partition that divides the heart’s two lower pumping chambers (ventricles). Hypoplastic left heart syndrome is characterized by underdevelopment of the left ventricle, the aortic and/or mitral valves, and the ascending aorta. Potential cardiovascular abnormalities following retinoid exposure include structural (anatomical) malformations of the heart such as transposition of the great vessels hypoplastic left heart syndrome ventricular septal defects (VSDs) and tetralogy of Fallot. Some affected infants may experience paralysis (palsy) of certain facial nerves. Additional craniofacial findings include widely spaced eyes (hypertelorism), incomplete closure of the roof of the mouth (cleft palate), an abnormal groove in the upper lip (cleft lip), and/or underdevelopment of the middle area of the face (midface hypoplasia). Abnormalities of the middle and inner ears may also be present including hearing loss. Some affected infants may display small, low-set ears (microtia) with narrowing (stenosis) of the ear canals or are born missing ears. Affected infants may not have all of the symptoms listed below. The specific symptoms and physical findings can vary from one infant to another. Additional anomalies may include renal, thymus gland abnormality and parathyroid gland abnormalities.Ĭharacteristic features of infants with fetal retinoid syndrome include abnormalities of the craniofacial region, CNS, and cardiovascular system. However, characteristic features may include growth delay before and after birth (intrauterine growth restriction and postnatal growth retardation) malformations of the skull and facial (craniofacial) region central nervous system (CNS) abnormalities heart abnormalities and/or additional physical findings. The range and severity of associated abnormalities are variable. Isotretinoin and its commercially available brands, although effective in the treatment of acne, can cause developmental abnormalities in the fetus (teratogenic effects) and therefore should not be used during pregnancy due to the risk of birth defects. The most well-known retinoid is isotretinoin (commonly referred to by one of its former brand names, Accutane or Roaccutane, a drug used to treat severe cystic acne. Retinoids are the synthetic (man-made) forms of vitamin A used to treat various skin (dermatological) conditions. Overall malformation rates in live-born infants from prospectively reported pregnancies range from 5% to 20%. The absolute risk of congenital malformations following oral isotretinoin therapy is currently unclear. 5 Myths About Orphan Drugs and the Orphan Drug Actįetal retinoid syndrome is a pattern of mental and physical birth defects (congenital malformations) that can result from a mother taking retinoids during pregnancy.Information on Clinical Trials and Research Studies.
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