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7 matching records.

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Keyword: Congenital Disorders; Language: English

Congenital Adrenal Hyperplasia

Lab Tests Online UK

Also Known As: CAH; 21-hydroxylase Deficiency Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of the adrenal gland, small triangular organs located on top of the kidneys that secrete hormones. CAH is associated ...

English - Online Resource

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Congenital Cystic Adenomatoid Malformation

Patient UK

Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development in unborn babies. CCAM is increasingly detected by the routine ultrasound scan during pregnancy. Congenital means present at birth.

English - Booklet / Leaflet / Factsheet / Flyer

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Congenital heart disease

the NHS website

Congenital heart disease is a general term for a range of birth defects that affect the normal workings of the heart. Congenital means that a condition is present at birth.

English - Online Resource

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Down's syndrome

the NHS website

Down’s syndrome is a genetic disorder that was named after John Langdon Down, the doctor who first recognised it as a distinct condition in 1866. Down’s syndrome affects a baby's normal physical development and causes moderate to severe learning diff...

English - Online Resource

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Noonan syndrome

the NHS website

Noonan syndrome is a genetic disorder that can cause a wide range of potential symptoms which can vary from person to person. The three most common symptoms are: - short stature - distinctive and unusual physical features, such as a wid...

English - Online Resource

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Phenylketonuria

the NHS website

Phenylketonuria (PKU) is a rare genetic condition that is present from birth (congenital). In PKU, the body is unable to break down a chemical called phenylalanine which then builds up in the blood and in the brain.

English - Online Resource

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Rett syndrome

the NHS website

Rett syndrome is a genetic disorder that affects approximately 1 in 12,000 females (it is rarely seen in boys). It causes severe physical and mental disability that begins in early childhood.

English - Online Resource

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