Congenital and inherited disorders for professionals
Our congenital and inherited disorders hub provides clear, current insights for medical professionals working across the NHS and beyond. From condition overviews to specialist updates, the content supports both quick reference and deeper learning. The goal is to help clinicians deliver safe, effective, and informed care in every patient interaction involving congenital and inherited disorders.
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- 22q11.2 deletion syndrome
- Acatalasaemia
- Achondroplasia
- Agenesis of the corpus callosum
- Albinism
- Alkaptonuria
- Alpha-1-antitrypsin deficiency
- Alport's syndrome
- Alström's syndrome
- Ambiguous genitalia
- Aminoacidurias
- Anderson-Fabry disease
- Angelman's syndrome
- Arthrogryposis multiplex congenita
- Ataxia with telangiectasia
- Atrial septal defect
- Autoimmune lymphoproliferative syndrome
- Autosomal dominant cerebellar ataxia
- Autosomal recessive polycystic kidney disease
- Bardet-Biedl syndrome
- Batten's syndrome
- Becker's muscular dystrophy
- Beckwith-Wiedemann syndrome
- Benign congenital hypotonia
- Bernard-Soulier syndrome
- Beta hex deficiency
- Biliary atresia
- Biotinidase deficiency
- Bleeding disorders
- Bowel (colonic) polyps
- Bowen-Armstrong syndrome
- Bruton's agammaglobulinaemia
- Cardiomyopathies
- Cerebral autosomal dominant arteriopathy
- Charcot-Marie-Tooth disease
- Chediak-Higashi syndrome
- Chiari malformations
- Childhood and congenital hypothyroidism
- Choledochal cysts
- Chronic granulomatous disease
- Cleft lip and palate
- Coloboma
- Colour vision and its disorders
- Complement deficiencies
- Congenital adrenal hyperplasia
- Congenital diaphragmatic hernia
- Congenital ear problems
- Congenital gastrointestinal malformations
- Congenital heart disease in adults
- Congenital heart disease in children
- Congenital HIV and childhood AIDS
- Congenital nasal problems
- Congenital rubella syndrome
- Congenital throat problems
- Congenital urogenital malformations
- Congenital, perinatal and neonatal infections
- Cornelia de Lange syndrome
- Cri du chat syndrome
- Crigler-Najjar syndrome
- Cystic fibrosis
- Cytomegalovirus
- Dandy-Walker syndrome
- Diamond-Blackfan syndrome
- Diaphyseal aclasis
- Down's syndrome
- Dubin-Johnson syndrome
- Duchenne muscular dystrophy
- Ebstein's anomaly
- Edwards' syndrome
- Ehlers-Danlos syndromes
- Eisenmenger's syndrome
- Endocardial fibroelastosis
- Exomphalos and gastroschisis
- Factor V Leiden mutation causing thrombophilia
- Fallot's tetralogy
- Familial benign pemphigus
- Familial mediterranean fever
- Fanconi's anaemia
- Favism
- Female genital abnormalities
- Fragile X syndrome
- Friedreich's ataxia
- Galactosaemia
- Gaucher's disease
- Gilbert's syndrome
- Glucose-6-phosphate dehydrogenase deficiency
- Glutaric acidaemia
- Glycogen storage disorders
- Goldenhar syndrome
- Grey platelet syndrome
- Haemangiomata of skin
- Haemophilia A
- Haemophilia B
- Hamartomas
- Hereditary angio-oedema
- Hereditary haemochromatosis
- Hereditary retinal dystrophies
- Hereditary spherocytosis
- Homocystinuria
- Hunter's syndrome
- Huntington's disease
- Hyperaldosteronism
- Hypermobility syndrome
- Hyperoxaluria
- Hypokalaemic alkalosis
- Hypokalaemic periodic paralysis
- Hypophosphataemia
- Hypophosphataemic rickets
- Ichthyosis hystrix
- Immunodeficiency
- Inborn errors of metabolism - an introduction
- Infantile hypercalcaemia
- Infantile hypertrophic pyloric stenosis
- Inherited kidney diseases
- Joubert's syndrome
- Juvenile Paget's disease
- Kartagener's syndrome
- Klinefelter's syndrome
- Klippel-Feil syndrome
- Klippel-Trénaunay syndrome
- Krabbe's disease
- Laurence-Moon syndrome
- Leber's hereditary optic neuropathy
- Lesch-Nyhan syndrome
- Limb-girdle muscular dystrophy
- Lowe's (oculo-cerebro-renal) syndrome
- Lutembacher's syndrome
- Maple syrup urine disease
- Marfan's syndrome
- MCAD deficiency
- McArdle’s disease
- McCune-Albright syndrome
- Medullary sponge kidney
- Moebius syndrome
- Morquio's syndrome
- Mucopolysaccharidosis type I
- Mulibrey nanism
- Myopathies
- Nephronophthisis
- Neural tube defects
- Neurofibromatosis
- Niemann-Pick disease
- Noonan's syndrome
- Osler-Weber-Rendu syndrome
- Osteochondrodysplasias
- Osteochondroses
- Parkes Weber's syndrome
- Paroxysmal nocturnal haemoglobinuria
- Patau's syndrome
- Patent ductus arteriosus
- Pelizaeus-Merzbacher disease
- Pernicious anaemia and B12 deficiency
- Phenylketonuria
- Phosphoenolpyruvate carboxykinase deficiency
- Phosphofructokinase deficiency
- Phosphoglycerate kinase 1 deficiency
- Pierre Robin sequence
- Pigmented purpuric dermatosis
- Polycystic kidney disease
- Pompe's glycogen storage disease
- Porphyrias
- Potter's syndrome
- Prader-Willi syndrome
- Propionic acidaemia
- Protein C deficiency
- Protein S deficiency
- Prune belly syndrome
- Pseudoxanthoma elasticum
- Pulmonary valve disease
- Pyruvate carboxylase deficiency
- Pyruvate kinase deficiency
- Refsum's disease
- Renal fanconi syndrome
- Retinitis pigmentosa
- Rett syndrome
- Romano-Ward syndrome
- Rotor syndrome
- Rubinstein-Taybi syndrome
- Schilder's disease
- Septo-optic dysplasia
- Sickle cell disease and sickle cell anaemia
- Silver-Russell syndrome
- Smith-Lemli-Opitz syndrome
- Sneddon's syndrome
- Spina bifida
- Spinal muscular atrophy
- Sturge-Weber syndrome
- Syphilis
- TAR syndrome
- Tay-Sachs disease
- Thalassaemia
- Thrombophilia
- Tourette syndrome and other tic disorders
- Transposition of the great arteries
- Treacher Collins' syndrome
- Tuberous sclerosis
- Turner syndrome
- Tyrosinaemia
- Usher's syndrome
- Ventricular septal defect
- Von Gierke's glycogen storage disease
- Von Hippel-Lindau disease
- Werdnig-Hoffmann disease
- Werner's syndrome
- Wilson's disease
- Wiskott-Aldrich syndrome
- Wolf-Hirschhorn syndrome
- Wolff-Parkinson-White syndrome
- X-linked lymphoproliferative syndrome
- Xeroderma pigmentosum