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

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

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

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

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

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

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

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


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