Genetics

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Congenital abnormalities

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Congenital abnormalities

Malformation

Disruption

Deformation

Syndrome

Sequence

Dysplasia

Association

Classification

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Apparent at birth in 1 in 50 infants and account for 20-25% of deaths in childhood

An abnormal organisation of cells in tissue e.g. thanatophoric dysplasia. Caused by a single gene defect, high recurrence risk for siblings/offspring

An abnormal mechanical force that distorts a structure e.g. club foot, hip dislocation. Usually occurs in late pregnancy and has good prognosis because the organ is normal in function just oddly shaped

A consistent pattern of abnormalities with a specific underlying cause e.g. Down syndrome - chromosomal abnormalities

Non-random occurrence of abnormalities not explained by a syndrome. Cause is unknown

A primary structural defect e.g atrial septal defects and cleft lip. There is usually a single organ showing multifactorial inheritance

Multiple abnormalities initiated by a primary factor e.g. reduced amniotic fluid leads to Potter sequence. Initial factor could be genetic

Not mutually exclusive e.g. a primary malformation of the kidneys can lead to the same sequence of events as potter sequence

A secondary structural defect of an organ or tissue e.g amniotic band causing digital amputation. Usually caused by ischaemia, infection or trauma. Not genetic but can be predisposed


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