See Conditions by category > Diseases and Abnormalities at or before Birth
- Abetalipoproteinemia
- Abnormalities, Drug-Induced
- Abnormalities, Multiple
- Abnormalities, Radiation-Induced
- Achondroplasia
- Acidosis, Renal Tubular
- Acute Chest Syndrome
- Adenomatous Polyposis Coli
- Adrenal Hyperplasia, Congenital
- Adrenogenital Syndrome
- Adrenoleukodystrophy
- Afibrinogenemia
- Aicardi Syndrome
- Alagille Syndrome
- Albinism
- Albinism, Ocular
- Albinism, Oculocutaneous
- Alkaptonuria
- Alpha 1-Antitrypsin Deficiency
- Alpha-Mannosidosis
- Alpha-Thalassemia
- Alstrom Syndrome
- Amelogenesis Imperfecta
- Amino Acid Metabolism, Inborn Errors
- Amyloid Neuropathies, Familial
- Amyloidosis, Familial
- Andersen Syndrome
- Anemia, Diamond-Blackfan
- Anemia, Dyserythropoietic, Congenital
- Anemia, Hemolytic, Congenital
- Anemia, Hemolytic, Congenital Nonspherocytic
- Anemia, Hypoplastic, Congenital
- Anemia, Neonatal
- Anemia, Sickle Cell
- Anencephaly
- Angelman Syndrome
- Angioedemas, Hereditary
- Aniridia
- Anodontia
- Anophthalmos
- Antithrombin III Deficiency
- Anus, Imperforate
- Aortic Coarctation
- Arachnodactyly
- Argininosuccinic Aciduria
- Arnold-Chiari Malformation
- Arrhythmogenic Right Ventricular Dysplasia
- Arteriovenous Fistula
- Arteriovenous Malformations
- Arthritis, Gouty
- Arthrogryposis
- Aspartylglucosaminuria
- Asphyxia Neonatorum
- Ataxia Telangiectasia
- Autoimmune Lymphoproliferative Syndrome
- Bardet-Biedl Syndrome
- Barth Syndrome
- Basal Cell Nevus Syndrome
- Beta-Thalassemia
- Biliary Atresia
- Biotinidase Deficiency
- Birt-Hogg-Dube Syndrome
- Birth Injuries
- Bladder Exstrophy
- Blood Coagulation Disorders, Inherited
- Bloom Syndrome
- Brain Diseases, Metabolic, Inborn
- Bronchopulmonary Dysplasia
- Brugada Syndrome
- Bulbo-Spinal Atrophy, X-Linked
- CADASIL
- Canavan Disease
- Carbamoyl-Phosphate Synthase I Deficiency Disease
- Cardiomyopathy, Hypertrophic, Familial
- Cardiovascular Abnormalities
- Carney Complex
- Caroli Disease
- Central Nervous System Vascular Malformations
- Charcot-Marie-Tooth Disease
- Cherubism
- Cholesterol Ester Storage Disease
- Chorioamnionitis
- Choroideremia
- Chromosome Disorders
- Citrullinemia
- Cleft Lip
- Cleft Palate
- Cockayne Syndrome
- Coloboma
- Colorectal Neoplasms, Hereditary Nonpolyposis
- Congenital Abnormalities
- Congenital Hypothyroidism
- Coproporphyria, Hereditary
- Corneal Dystrophies, Hereditary
- Coronary Vessel Anomalies
- Craniofacial Abnormalities
- Craniofacial Dysostosis
- Craniosynostoses
- Crigler-Najjar Syndrome
- Cryopyrin-Associated Periodic Syndromes
- Cryptorchidism
- Cutis Laxa
- Cystic Adenomatoid Malformation of Lung, Congenital
- Cystic Fibrosis
- Cystinosis
- Cystinuria
- Darier Disease
- Deaf-Blind Disorders
- Dent Disease
- Denys-Drash Syndrome
- Dermatitis, Atopic
- Dextrocardia
- Diaphragmatic Eventration
- DiGeorge Syndrome
- Digestive System Abnormalities
- Disorders of Sex Development
- Distal Myopathies
- Double Outlet Right Ventricle
- Down Syndrome
- Ductus Arteriosus, Patent
- Dwarfism
- Dysautonomia, Familial
- Dyskeratosis Congenita
- Dysplastic Nevus Syndrome
- Ebstein Anomaly
- Ectodermal Dysplasia
- Ectodermal Dysplasia 1, Anhidrotic
- Ehlers-Danlos Syndrome
- Eisenmenger Complex
- Elliptocytosis, Hereditary
- Ellis-Van Creveld Syndrome
- Encephalocele
- Endocardial Cushion Defects
- Epidermolysis Bullosa
- Epidermolysis Bullosa Acquisita
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa, Junctional
- Epispadias
- Erythroblastosis, Fetal
- Esophageal Atresia
- Exostoses, Multiple Hereditary
- Eye Abnormalities
- Eye Diseases, Hereditary
- Fabry Disease
- Factor VII Deficiency
- Factor X Deficiency
- Factor XI Deficiency
- Factor XIII Deficiency
- Familial Mediterranean Fever
- Fanconi Anemia
- Fanconi Syndrome
- Favism
- Fetal Alcohol Syndrome
- Fetal Diseases
- Fetal Growth Retardation
- Fetal Hypoxia
- Fetal Macrosomia
- Fetofetal Transfusion
- Fetomaternal Transfusion
- Focal Dermal Hypoplasia
- Foot Deformities, Congenital
- Foramen Ovale, Patent
- Fragile X Syndrome
- Fraser Syndrome
- Frasier Syndrome
- Friedreich Ataxia
- Fructose Intolerance
- Fuchs' Endothelial Dystrophy
- Fucosidosis
- Funnel Chest
- Galactosemias
- Gangliosidoses
- Gangliosidoses, GM2
- Gangliosidosis, GM1
- Gardner Syndrome
- Gastroschisis
- Gaucher Disease
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Giant Axonal Neuropathy
- Gitelman Syndrome
- Glucosephosphate Dehydrogenase Deficiency
- Glycogen Storage Disease
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type IV
- Glycogen Storage Disease Type VII
- Glycosuria, Renal
- Gonadal Dysgenesis
- Gout
- Granulomatous Disease, Chronic
- Gray Platelet Syndrome
- Gyrate Atrophy
- Hamartoma Syndrome, Multiple
- Hand Deformities, Congenital
- Heart Defects, Congenital
- Heart Septal Defects
- Heart Septal Defects, Atrial
- Heart Septal Defects, Ventricular
- Hemangioma, Cavernous, Central Nervous System
- Hemochromatosis
- Hemoglobin C Disease
- Hemoglobin SC Disease
- Hemoglobinopathies
- Hemophilia A
- Hemophilia B
- Hepatolenticular Degeneration
- Hereditary Autoinflammatory Diseases
- Hereditary Central Nervous System Demyelinating Diseases
- Hereditary Sensory and Autonomic Neuropathies
- Hereditary Sensory and Motor Neuropathy
- Heredodegenerative Disorders, Nervous System
- Hermanski-Pudlak Syndrome
- Hernia, Umbilical
- Hip Dislocation, Congenital
- Hirschsprung Disease
- Holoprosencephaly
- Homocystinuria
- Huntington Disease
- Hyaline Membrane Disease
- Hydrophthalmos
- Hydrops Fetalis
- Hyper-IgM Immunodeficiency Syndrome, Type 1
- Hyperandrogenism
- Hyperargininemia
- Hyperbilirubinemia, Neonatal
- Hyperhomocysteinemia
- Hyperkeratosis, Epidermolytic
- Hyperlipidemia, Familial Combined
- Hyperlipoproteinemia Type I
- Hyperlipoproteinemia Type II
- Hyperlipoproteinemia Type III
- Hyperlipoproteinemia Type IV
- Hyperlipoproteinemia Type V
- Hyperoxaluria, Primary
- Hypertelorism
- Hypoalphalipoproteinemias
- Hypobetalipoproteinemias
- Hypokalemic Periodic Paralysis
- Hypolipoproteinemias
- Hypophosphatasia
- Hypophosphatemia, Familial
- Hypophosphatemic Rickets, X-Linked Dominant
- Hypoplastic Left Heart Syndrome
- Hypospadias
- Ichthyosiform Erythroderma, Congenital
- Ichthyosis
- Ichthyosis Vulgaris
- Ichthyosis, Lamellar
- Ichthyosis, X-Linked
- Incontinentia Pigmenti
- Infant, Newborn, Diseases
- Infant, Premature, Diseases
- Intestinal Atresia
- Intracranial Arteriovenous Malformations
- Isolated Noncompaction of the Ventricular Myocardium
- Jaundice, Neonatal
- Kallmann Syndrome
- Kartagener Syndrome
- Keratoderma, Palmoplantar
- Keratoderma, Palmoplantar, Diffuse
- Kernicterus
- Klinefelter Syndrome
- Lactose Intolerance
- Lafora Disease
- Laron Syndrome
- Laryngomalacia
- Laryngostenosis
- Laurence-Moon Syndrome
- Leigh Disease
- Lesch-Nyhan Syndrome
- Leukodystrophy, Globoid Cell
- Leukodystrophy, Metachromatic
- Leukomalacia, Periventricular
- Li-Fraumeni Syndrome
- Liddle Syndrome
- Limb Deformities, Congenital
- Lipid Metabolism, Inborn Errors
- Lipidoses
- Loeys-Dietz Syndrome
- Long QT Syndrome
- Lymphatic Abnormalities
- Lysosomal Storage Diseases
- Lysosomal Storage Diseases, Nervous System
- Machado-Joseph Disease
- Malformations of Cortical Development
- Mannosidase Deficiency Diseases
- Maple Syrup Urine Disease
- Marfan Syndrome
- Maxillofacial Abnormalities
- Meconium Aspiration Syndrome
- MELAS Syndrome
- Meningomyelocele
- Menkes Kinky Hair Syndrome
- Mental Retardation, X-Linked
- Metabolism, Inborn Errors
- Metal Metabolism, Inborn Errors
- Mevalonate Kinase Deficiency
- Microcephaly
- Micrognathism
- Microphthalmos
- Mineralocorticoid Excess Syndrome, Apparent
- Mobius Syndrome
- Mucolipidoses
- Mucopolysaccharidoses
- Mucopolysaccharidosis I
- Mucopolysaccharidosis II
- Mucopolysaccharidosis III
- Mucopolysaccharidosis IV
- Mucopolysaccharidosis VI
- Mucopolysaccharidosis VII
- Multicystic Dysplastic Kidney
- Multiple Endocrine Neoplasia
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2a
- Multiple Endocrine Neoplasia Type 2b
- Muscular Dystrophies
- Muscular Dystrophies, Limb-Girdle
- Muscular Dystrophy, Duchenne
- Muscular Dystrophy, Facioscapulohumeral
- Muscular Dystrophy, Oculopharyngeal
- Musculoskeletal Abnormalities
- Myasthenic Syndromes, Congenital
- Myotonia Congenita
- Myotonic Dystrophy
- Nail-Patella Syndrome
- Neonatal Abstinence Syndrome
- Neoplastic Syndromes, Hereditary
- Nephritis, Hereditary
- Nervous System Malformations
- Netherton Syndrome
- Neural Tube Defects
- Neuroacanthocytosis
- Neurocutaneous Syndromes
- Neurofibromatoses
- Neurofibromatosis 1
- Neurofibromatosis 2
- Neuronal Ceroid-Lipofuscinoses
- Neuronal Migration Disorders
- Niemann-Pick Disease, Type A
- Niemann-Pick Disease, Type B
- Niemann-Pick Disease, Type C
- Niemann-Pick Diseases
- Noonan Syndrome
- Nystagmus, Congenital
- Oculocerebrorenal Syndrome
- Ophthalmia Neonatorum
- Optic Atrophies, Hereditary
- Optic Atrophy, Autosomal Dominant
- Optic Atrophy, Hereditary, Leber
- Ornithine Carbamoyltransferase Deficiency Disease
- Orofaciodigital Syndromes
- Osteogenesis Imperfecta
- Pachyonychia Congenita
- Pallister-Hall Syndrome
- Pantothenate Kinase-Associated Neurodegeneration
- Papillon-Lefevre Disease
- Paralyses, Familial Periodic
- Paralysis, Hyperkalemic Periodic
- Pelizaeus-Merzbacher Disease
- Pemphigus, Benign Familial
- Pentalogy of Cantrell
- Periventricular Nodular Heterotopia
- Peroxisomal Disorders
- Persistent Fetal Circulation Syndrome
- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Peutz-Jeghers Syndrome
- Phenylketonuria, Maternal
- Phenylketonurias
- Piebaldism
- Pierre Robin Syndrome
- Plagiocephaly
- Platybasia
- POEMS Syndrome
- Polydactyly
- Porokeratosis
- Porphyria Cutanea Tarda
- Porphyria, Acute Intermittent
- Porphyria, Erythropoietic
- Porphyria, Variegate
- Porphyrias
- Porphyrias, Hepatic
- Port-Wine Stain
- Prader-Willi Syndrome
- Progeria
- Prognathism
- Propionic Acidemia
- Protein C Deficiency
- Proteus Syndrome
- Protoporphyria, Erythropoietic
- Pseudohypoaldosteronism
- Pseudohypoparathyroidism
- Pseudopseudohypoparathyroidism
- Pseudoxanthoma Elasticum
- Pulmonary Atresia
- Refsum Disease
- Refsum Disease, Infantile
- Renal Tubular Transport, Inborn Errors
- Respiratory Distress Syndrome, Newborn
- Respiratory System Abnormalities
- Retinitis Pigmentosa
- Retinopathy of Prematurity
- Retrognathism
- Rett Syndrome
- Romano-Ward Syndrome
- Rothmund-Thomson Syndrome
- Rubinstein-Taybi Syndrome
- Sandhoff Disease
- Sarcoglycanopathies
- Scimitar Syndrome
- Septo-Optic Dysplasia
- Severe Combined Immunodeficiency
- Sex Chromosome Disorders of Sex Development
- Sickle Cell Trait
- Silver-Russell Syndrome
- Situs Inversus
- Skin Abnormalities
- Skin Diseases, Genetic
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Spastic Paraplegia, Hereditary
- Spherocytosis, Hereditary
- Sphingolipidoses
- Spina Bifida Cystica
- Spinal Dysraphism
- Spinal Muscular Atrophies of Childhood
- Spinocerebellar Ataxias
- Spinocerebellar Degenerations
- Syndactyly
- Tangier Disease
- Tay-Sachs Disease
- Telangiectasia, Hereditary Hemorrhagic
- Tetralogy of Fallot
- Thalassemia
- Thrombasthenia
- Tooth Abnormalities
- Tooth, Supernumerary
- Tourette Syndrome
- Toxoplasmosis, Congenital
- Tracheobronchomalacia
- Tracheomalacia
- Transposition of Great Vessels
- Trichothiodystrophy Syndromes
- Tricuspid Atresia
- Truncus Arteriosus, Persistent
- Tuberous Sclerosis
- Turner Syndrome
- Tyrosinemias
- Unverricht-Lundborg Syndrome
- Urea Cycle Disorders, Inborn
- Urogenital Abnormalities
- Usher Syndromes
- Vascular Malformations
- Velopharyngeal Insufficiency
- Vitelliform Macular Dystrophy
- Von Willebrand Disease, Type 1
- Von Willebrand Disease, Type 2
- Von Willebrand Disease, Type 3
- Von Willebrand Diseases
- WAGR Syndrome
- Walker-Warburg Syndrome
- Werner Syndrome
- Williams Syndrome
- Wilms Tumor
- Wiskott-Aldrich Syndrome
- Wolff-Parkinson-White Syndrome
- Wolfram Syndrome
- Wolman Disease
- X-Linked Combined Immunodeficiency Diseases
- Xanthomatosis, Cerebrotendinous
- Xeroderma Pigmentosum
- Zellweger Syndrome
- 22q11 Deletion Syndrome