Congenital and Inherited Disorders
- 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 (Symptoms and Management)
- 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 Throat Problems
- Congenital Urogenital Malformations
- Congenital, Perinatal and Neonatal Infections
- Cornelia De Lange Syndrome
- Cri du Chat Syndrome
- Crigler-Najjar Syndrome
- Cystic Fibrosis
- Cytomegalovirus (Causes, Symptoms, and Treatment)
- Dandy-Walker Syndrome
- Diamond-Blackfan Syndrome
- Diaphyseal Aclasis
- Down's Syndrome (Trisomy 21)
- Dubin-Johnson Syndrome
- Duchenne Muscular Dystrophy
- Ebstein's Anomaly
- Edwards' Syndrome (Trisomy 18)
- Ehlers-Danlos Syndromes
- Eisenmenger's Syndrome
- Endocardial Fibroelastosis
- Exomphalos and Gastroschisis
- Factor V Leiden Mutation Causing Thrombophilia
- Fallot's Tetralogy
- Familial Benign Pemphigus (Hailey-Hailey Disease)
- Familial Mediterranean Fever
- Fanconi's Anaemia
- Favism
- Female Genital Abnormalities
- Fragile X Syndrome (Causes, Symptoms and Treatment)
- Friedreich's Ataxia
- Galactosaemia
- Gaucher's Disease
- Gene Therapy
- Gilbert's Syndrome
- Glucose-6-phosphate Dehydrogenase Deficiency
- Glutaric Acidaemia
- Glycogen Storage Disorders
- Goldenhar's Syndrome
- Grey Platelet Syndrome
- Haemangiomata of Skin
- Haemophilia A (Factor VIII Deficiency)
- Haemophilia B (Factor IX Deficiency)
- Hamartomas
- Hereditary Angio-oedema
- Hereditary Haemochromatosis (Causes, Symptoms, and Treatment)
- Hereditary Retinal Dystrophies
- Hereditary Spherocytosis
- Homocystinuria
- Hunter's Syndrome
- Huntington's Disease (Causes, Symptoms, and Treatment)
- Hyperaldosteronism
- Hypermobility Syndrome (Causes, Symptoms, and Treatment)
- Hyperoxaluria
- Hypokalaemic Alkalosis
- Hypokalaemic Periodic Paralysis
- Hypophosphataemia
- Hypophosphataemic Rickets
- Ichthyosis Hystrix (Lambert Type)
- Immunodeficiency (Primary and Secondary)
- Inborn Errors of Metabolism - an Introduction
- Infantile Hypercalcaemia (Williams' Syndrome)
- 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 (Causes, Symptoms, and Treatment)
- MCAD Deficiency
- McArdle’s Disease (Glycogen Storage Disease Type V)
- McCune-Albright Syndrome
- Medullary Sponge Kidney
- Moebius Syndrome
- Morquio's Syndrome
- Mucopolysaccharidosis Type I (Hurler's Syndrome)
- 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 (Trisomy 13)
- Patent Ductus Arteriosus
- Pelizaeus-Merzbacher Disease
- Pernicious Anaemia and B12 Deficiency
- Phenylketonuria
- Phosphoenolpyruvate Carboxykinase Deficiency
- Phosphofructokinase Deficiency
- Phosphoglycerate Kinase Deficiency
- Pierre Robin Sequence
- Pigmented Purpuric Dermatosis
- Polycystic Kidney Disease (Causes, Symptoms and Treatment)
- Pompe's Glycogen Storage Disease - Type II
- Porphyrias
- Potter's Syndrome
- Prader-Willi Syndrome (Causes, Symptoms and Treatment)
- 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's Syndrome
- Rubella and Pregnancy
- 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's 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
- Wolff-Parkinson-White Syndrome
- Wolf-Hirschhorn Syndrome
- Xeroderma Pigmentosum
- X-linked Lymphoproliferative Syndrome
Notes on Congenital and Inherited Disorders