Structural Gene Abnormalities

Wikis > Paediatrics > Syndromes > Structural Gene Abnormalities

Structural Gene Abnormalities (some covered elesewhere)

Mutation in genes that affect structured integrity of connective tissues

Marfan’s Syndrome:
Autosomal dominant. Disturbance of mesenchyme tissues. Patients are tall with long thin limbs and ligamentous laxity. Feet are longer and narrower. Flatfeet are common.

Homocystinuria:

Ehlers-Danlos Syndrome:
Autosomal dominant – characterised by hyperextensibility of skin, joint hypermobility, joint dislocation and soft tissue calcification. Increase in elliptic fibres in the skin and a degeneration of the skin collagen- lock up classification

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