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Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders. Variant hemoglobinopathies (including Hb E) [1] Glucose-6-phosphate dehydrogenase deficiency (G6PD) Inborn errors of amino acid metabolism ...
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
Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2] The disabilities can range from mild to severe. [6] Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part ...
The infant may be seriously affected and have a variety of birth defects. Complications in the mother and fetus can include pre-eclampsia, anemia, miscarriage, low birth weight, still birth, congestive heart failure, impaired neurointellectual development, and if severe, congenital iodine deficiency syndrome.
Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the ...
Born in a poor neighborhood of Angola’s capital Luanda, the 10-month old boy has microcephaly, a birth defect marked by a small head and serious developmental problems. Cula is one of at least ...
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.