Common consultations

This chapter presents some of the disorders more commonly seen in a genetics clinic from achondroplasia to autosomal dominant polycystic kidney disease, Alport syndrome, androgen insensitivity syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, congenital adrenal hyperplasia, glaucoma, haemochromatosis, hereditary spastic paraplegias, Leigh encephalopathy, Marfan’s syndrome, Noonan syndrome, and many others. It gives an explanation of the clinical approach, the history, the examination, the investigation, and the diagnosis and lists the support groups.