Congenital Anomalies / Hereditary Conditions

Conditions

albinism
alpha-1 antitrypsin deficiency
autosomal dominant polycystic kidney disease (previously known as: polycystic kidney disease)
Charcot-Marie-Tooth disease
Gaucher disease
haemophilia
hereditary haemochromatosis (previously known as: haemochromatosis)
hereditary spherocytosis
horseshoe kidney
Huntington disease (previously known as: Huntington chorea)
Marfan syndrome
multiple osteochondromatosis
osteogenesis imperfecta
sickle-cell disorder
von Willebrand disease
Wilson disease

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as at 5 Mar 2025

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