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
- Achondroplasia
- Agenesis of the corpus callosum
- Albinismo
- Alkaptonuria
- Deficit di alfa-1-antitripsina
- Alport's syndrome
- Alström's syndrome
- Ambiguous genitalia
- Aminoacidurias
- Malattia di Anderson-Fabry
- Sindrome di Angelman
- Artrogriposi multipla congenita
- Ataxia with telangiectasia
- Difetto del setto atriale
- Autoimmune lymphoproliferative syndrome
- Autosomal dominant cerebellar ataxia
- Autosomal recessive polycystic kidney disease
- sindrome di Bardet-Biedl
- Batten's syndrome
- Distrofia muscolare di Becker
- Sindrome di Beckwith-Wiedemann
- Benign congenital hypotonia
- Bernard-Soulier syndrome
- Beta hex deficiency
- Atresia biliare
- Biotinidase deficiency
- Disturbi emorragici
- Bowel (colonic) polyps
- Bowen-Armstrong syndrome
- Agammaglobulinemia di Bruton
- Cardiomiopatie
- Cerebral autosomal dominant arteriopathy
- Malattia di Charcot-Marie-Tooth
- Chediak-Higashi syndrome
- Chiari malformations
- Childhood and congenital hypothyroidism
- Cisti del coledoco
- Chronic granulomatous disease
- Labbro leporino e palatoschisi
- Coloboma
- Colour vision and its disorders
- Complement deficiencies
- Iperplasia surrenalica congenita
- Ernia diaframmatica congenita
- Congenital ear problems
- Congenital gastrointestinal malformations
- Congenital heart disease in adults
- Congenital heart disease in children
- HIV congenito e AIDS infantile
- Congenital nasal problems
- Congenital rubella syndrome
- Congenital throat problems
- Congenital urogenital malformations
- Infezioni congenite, perinatali e neonatali
- Cornelia de Lange syndrome
- Sindrome del cri du chat
- Sindrome di Crigler-Najjar
- Fibrosi cistica
- Cytomegalovirus
- Dandy-Walker syndrome
- sindrome di Diamond-Blackfan
- Diaphyseal aclasis
- Sindrome di Down
- Sindrome di Dubin-Johnson
- distrofia muscolare di Duchenne
- Ebstein's anomaly
- Sindrome di Edwards
- sindromi di Ehlers-Danlos
- sindrome di Eisenmenger
- Fibroelastosi endocardica
- Exomphalos and gastroschisis
- Factor V Leiden mutation causing thrombophilia
- Tetralogia di Fallot
- Familial benign pemphigus
- Familial mediterranean fever
- Fanconi's anaemia
- Favism
- Female genital abnormalities
- Sindrome dell'X fragile
- Atassia di Friedreich
- Galattosemia
- Malattia di Gaucher
- Sindrome di Gilbert
- Glucose-6-phosphate dehydrogenase deficiency
- Acidemia glutarica
- Disordini di accumulo di glicogeno
- Goldenhar syndrome
- Grey platelet syndrome
- Haemangiomata of skin
- Emofilia A
- Emofilia B
- Hamartomas
- Angioedema ereditario
- Hereditary haemochromatosis
- Hereditary retinal dystrophies
- Sferocitosi ereditaria
- Homocystinuria
- Hunter's syndrome
- Malattia di Huntington
- Hyperaldosteronism
- Sindrome di ipermobilità
- Hyperoxaluria
- Hypokalaemic alkalosis
- Hypokalaemic periodic paralysis
- Hypophosphataemia
- Hypophosphataemic rickets
- Ichthyosis hystrix
- Immunodeficienza
- 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
- Sindrome di Klinefelter
- Klippel-Feil syndrome
- Klippel-Trénaunay syndrome
- Krabbe's disease
- Sindrome di Laurence-Moon
- Leber's hereditary optic neuropathy
- Lesch-Nyhan syndrome
- Distrofia muscolare dei cingoli
- Lowe's (oculo-cerebro-renal) syndrome
- Lutembacher's syndrome
- Maple syrup urine disease
- Sindrome di Marfan
- MCAD deficiency
- Malattia di McArdle
- McCune-Albright syndrome
- Medullary sponge kidney
- Moebius syndrome
- Sindrome di Morquio
- Mucopolysaccharidosis type I
- Mulibrey nanism
- Miopatie
- Nephronophthisis
- Neural tube defects
- Neurofibromatosi
- Niemann-Pick disease
- Noonan's syndrome
- Sindrome di Osler-Weber-Rendu
- Osteochondrodysplasias
- Osteocondrosi
- Parkes Weber's syndrome
- Emoglobinuria parossistica notturna
- Sindrome di Patau
- Patent ductus arteriosus
- Pelizaeus-Merzbacher disease
- Anemia perniciosa e carenza di B12
- Phenylketonuria
- Deficienza di fosfoenolpiruvato carbossichinasi
- Phosphofructokinase deficiency
- Phosphoglycerate kinase 1 deficiency
- Pierre Robin sequence
- Pigmented purpuric dermatosis
- Malattia policistica renale
- Pompe's glycogen storage disease
- Porphyrias
- Sindrome di Potter
- Sindrome di Prader-Willi
- Propionic acidaemia
- Carenza di proteina C
- Carenza di proteina S
- Prune belly syndrome
- Pseudoxanthoma elasticum
- Pulmonary valve disease
- Deficit di piruvato carbossilasi
- Pyruvate kinase deficiency
- Refsum's disease
- Renal fanconi syndrome
- Retinite pigmentosa
- sindrome di Rett
- Romano-Ward syndrome
- Rotor syndrome
- Sindrome di Rubinstein-Taybi
- Schilder's disease
- Septo-optic dysplasia
- Malattia a cellule falciformi e anemia falciforme
- Silver-Russell syndrome
- Smith-Lemli-Opitz syndrome
- Sneddon's syndrome
- Spina bifida
- Atrofia muscolare spinale
- Sturge-Weber syndrome
- Sifilide
- TAR syndrome
- Tay-Sachs disease
- Talassemia
- Trombofilia
- Tourette syndrome and other tic disorders
- Trasposizione delle grandi arterie
- Treacher Collins' syndrome
- Tuberous sclerosis
- Sindrome di Turner
- Tyrosinaemia
- Usher's syndrome
- Difetto del setto ventricolare
- Malattia da accumulo di glicogeno di Von Gierke
- Von Hippel-Lindau disease
- Werdnig-Hoffmann disease
- Werner's syndrome
- la malattia di Wilson
- Wiskott-Aldrich syndrome
- Wolf-Hirschhorn syndrome
- Sindrome di Wolff-Parkinson-White
- X-linked lymphoproliferative syndrome
- Xeroderma pigmentoso