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.
- 22q11.2 deletion syndrome
- Acatalasaemia
- Acondroplasia
- Agenesis of the corpus callosum
- Albinism
- Alkaptonuria
- Alpha-1-antitrypsin deficiency
- Alport's syndrome
- Alström's syndrome
- Genitales ambiguos
- Aminoacidurias
- Anderson-Fabry disease
- Angelman's syndrome
- Arthrogryposis multiplex congenita
- Ataxia con telangiectasia
- Defecto del tabique auricular
- 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
- sintomáticas
- Hipotiroidismo infantil y congénito
- Choledochal cysts
- Chronic granulomatous disease
- Cleft lip and palate
- Coloboma
- Colour vision and its disorders
- Complement deficiencies
- Hiperplasia suprarrenal congénita
- Hernia diafragmática congénita
- 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
- Síndrome de Crigler-Najjar
- Fibrosis quística
- Cytomegalovirus
- Dandy-Walker syndrome
- Diamond-Blackfan syndrome
- Diaphyseal aclasis
- Síndrome de Down
- síndrome de Dubin-Johnson
- Distrofia muscular de Duchenne
- Ebstein's anomaly
- Edwards' syndrome
- síndromes de Ehlers-Danlos
- síndrome de Eisenmenger
- Endocardial fibroelastosis
- Exomphalos and gastroschisis
- Factor V Leiden mutation causing thrombophilia
- Tetralogía de Fallot
- Familial benign pemphigus
- Familial mediterranean fever
- Fanconi's anaemia
- Favism
- Female genital abnormalities
- Fragile X syndrome
- Ataxia de Friedreich
- Galactosemia
- Gaucher's disease
- Síndrome de Gilbert
- Deficiencia de glucosa-6-fosfato deshidrogenasa
- Glutaric acidaemia
- Glycogen storage disorders
- Goldenhar syndrome
- Grey platelet syndrome
- Haemangiomata of skin
- Hemofilia A
- Haemophilia B
- Hamartomas
- Hereditary angio-oedema
- Hereditary haemochromatosis
- Hereditary retinal dystrophies
- Esferocitosis hereditaria
- Homocystinuria
- Hunter's syndrome
- Enfermedad de Huntington
- Hiperaldosteronismo
- Hypermobility syndrome
- Hyperoxaluria
- Alcalosis hipocalémica
- Hypokalaemic periodic paralysis
- Hypophosphataemia
- Hypophosphataemic rickets
- Ichthyosis hystrix
- Inmunodeficiencia
- Inborn errors of metabolism - an introduction
- Infantile hypercalcaemia
- Infantile hypertrophic pyloric stenosis
- Inherited kidney diseases
- Joubert's syndrome
- Juvenile Paget's disease
- Síndrome de Kartagener
- Síndrome de Klinefelter
- Klippel-Feil syndrome
- Síndrome de Klippel-Trénaunay
- 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
- Enfermedad de orina con olor a jarabe de arce
- Síndrome de Marfan
- MCAD deficiency
- McArdle’s disease
- síndrome de McCune-Albright
- Medullary sponge kidney
- Moebius syndrome
- Morquio's syndrome
- Mucopolysaccharidosis type I
- Mulibrey nanism
- Myopathies
- Nephronophthisis
- Defectos del tubo neural
- Neurofibromatosis
- Niemann-Pick disease
- Noonan's syndrome
- Síndrome de Osler-Weber-Rendu
- Osteochondrodysplasias
- Osteochondroses
- Parkes Weber's syndrome
- Paroxysmal nocturnal haemoglobinuria
- Patau's syndrome
- Ductus arterioso persistente
- Pelizaeus-Merzbacher disease
- Pernicious anaemia and B12 deficiency
- Phenylketonuria
- Phosphoenolpyruvate carboxykinase deficiency
- Phosphofructokinase deficiency
- Phosphoglycerate kinase 1 deficiency
- Pierre Robin sequence
- Pigmented purpuric dermatosis
- Enfermedad renal poliquística
- Pompe's glycogen storage disease
- Porphyrias
- Síndrome de Potter
- Síndrome de Prader-Willi
- Propionic acidaemia
- Protein C deficiency
- Protein S deficiency
- Prune belly syndrome
- Pseudoxanthoma elasticum
- Pulmonary valve disease
- Pyruvate carboxylase deficiency
- Pyruvate kinase deficiency
- enfermedad de Refsum
- 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
- Espina bífida
- Spinal muscular atrophy
- Sturge-Weber syndrome
- Sífilis
- TAR syndrome
- Tay-Sachs disease
- Talasemia
- Trombofilia
- Tourette syndrome and other tic disorders
- Transposición de las grandes arterias
- Treacher Collins' syndrome
- Tuberous sclerosis
- Síndrome de Turner
- Tyrosinaemia
- Usher's syndrome
- Ventricular septal defect
- Von Gierke's glycogen storage disease
- Von Hippel-Lindau disease
- Werdnig-Hoffmann disease
- Werner's syndrome
- enfermedad de Wilson
- Wiskott-Aldrich syndrome
- Wolf-Hirschhorn syndrome
- Síndrome de Wolff-Parkinson-White
- X-linked lymphoproliferative syndrome
- Xeroderma pigmentosum