Browse Medical Conditions by Category: Diseases and Abnormalities at or before Birth
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22q11 Deletion Syndrome
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46, XX Disorders of Sex Development
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Abetalipoproteinemia
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Abnormalities, Drug-Induced
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Abnormalities, Multiple
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Abnormalities, Radiation-Induced
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Achondroplasia
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Acidosis, Renal Tubular
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Acrocephalosyndactylia
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Acrodermatitis
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Activated Protein C Resistance
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Acute Chest Syndrome
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Adenomatous Polyposis Coli
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Adrenal Hyperplasia, Congenital
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Adrenogenital Syndrome
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Adrenoleukodystrophy
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Afibrinogenemia
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Agenesis of Corpus Callosum
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Aicardi Syndrome
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Alagille Syndrome
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Albinism
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Albinism, Ocular
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Albinism, Oculocutaneous
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Alexander Disease
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Alkaptonuria
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Alpha 1-Antitrypsin Deficiency
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alpha-Mannosidosis
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alpha-Thalassemia
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Alstrom Syndrome
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Amelogenesis Imperfecta
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Amino Acid Metabolism, Inborn Errors
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Amniotic Band Syndrome
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Amyloid Neuropathies, Familial
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Amyloidosis, Familial
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Andersen Syndrome
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Androgen-Insensitivity Syndrome
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Anemia, Diamond-Blackfan
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Anemia, Dyserythropoietic, Congenital
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Anemia, Hemolytic, Congenital
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Anemia, Hemolytic, Congenital Nonspherocytic
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Anemia, Hypoplastic, Congenital
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Anemia, Neonatal
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Anemia, Sickle Cell
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Anencephaly
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Angelman Syndrome
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Angioedemas, Hereditary
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Aniridia
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Anodontia
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Anomalous Left Coronary Artery
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Anophthalmos
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Anorectal Malformations
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Antithrombin III Deficiency
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Aortic Coarctation
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Arachnodactyly
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Arachnoid Cysts
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Argininosuccinic Aciduria
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Arnold-Chiari Malformation
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Arrhythmogenic Right Ventricular Dysplasia
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Arteriovenous Fistula
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Arteriovenous Malformations
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Arthritis, Gouty
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Arthrogryposis
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Aspartylglucosaminuria
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Asphyxia Neonatorum
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Ataxia Telangiectasia
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Autoimmune Lymphoproliferative Syndrome
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Bardet-Biedl Syndrome
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Barth Syndrome
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Basal Cell Nevus Syndrome
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Beckwith-Wiedemann Syndrome
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Behcet Syndrome
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beta-Mannosidosis
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beta-Thalassemia
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Bicuspid Aortic Valve Disease
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Biliary Atresia
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Biotinidase Deficiency
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Birth Injuries
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Birt-Hogg-Dube Syndrome
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Bladder Exstrophy
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Blood Coagulation Disorders, Inherited
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Bloom Syndrome
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Brachydactyly
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Brain Diseases, Metabolic, Inborn
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Bronchomalacia
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Bronchopulmonary Dysplasia
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Brugada Syndrome
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Bulbo-Spinal Atrophy, X-Linked
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CADASIL
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Canavan Disease
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Carbamoyl-Phosphate Synthase I Deficiency Disease
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Carbohydrate Metabolism, Inborn Errors
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Cardiomyopathy, Dilated
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Cardiomyopathy, Hypertrophic, Familial
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Cardiovascular Abnormalities
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Carney Complex
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Caroli Disease
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Carotid-Cavernous Sinus Fistula
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Central Nervous System Cysts
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Central Nervous System Vascular Malformations
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Cerebral Amyloid Angiopathy, Familial
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Charcot-Marie-Tooth Disease
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CHARGE Syndrome
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Chediak-Higashi Syndrome
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Cherubism
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Choanal Atresia
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Choledochal Cyst
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Cholesterol Ester Storage Disease
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Chondrodysplasia Punctata, Rhizomelic
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Chorioamnionitis
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Choroideremia
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Chromosome Disorders
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Ciliary Motility Disorders
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Ciliopathies
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Citrullinemia
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Classical Lissencephalies and Subcortical Band Heterotopias
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Cleft Lip
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Cleft Palate
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Clubfoot
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Cockayne Syndrome
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Coffin-Lowry Syndrome
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Colic
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Coloboma
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Colorectal Neoplasms, Hereditary Nonpolyposis
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Cone-Rod Dystrophies
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Congenital Abnormalities
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Congenital Bone Marrow Failure Syndromes
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Congenital Disorders of Glycosylation
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Congenital Hyperinsulinism
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Congenital Hypothyroidism
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Congenitally Corrected Transposition of the Great Arteries
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Congenital Microtia
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Coproporphyria, Hereditary
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Corneal Dystrophies, Hereditary
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Coronary Vessel Anomalies
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Costello Syndrome
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Craniofacial Abnormalities
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Craniofacial Dysostosis
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Craniosynostoses
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Cri-du-Chat Syndrome
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Crigler-Najjar Syndrome
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Cryopyrin-Associated Periodic Syndromes
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Cryptorchidism
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Cutis Laxa
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Cystic Adenomatoid Malformation of Lung, Congenital
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Cystic Fibrosis
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Cystinosis
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Cystinuria
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Darier Disease
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Deaf-Blind Disorders
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De Lange Syndrome
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Dental Enamel Hypoplasia
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Dent Disease
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Dentinogenesis Imperfecta
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Dentofacial Deformities
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Denys-Drash Syndrome
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Dermatitis, Atopic
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Developmental Dysplasia of the Hip
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Dextrocardia
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Diaphragmatic Eventration
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Diastema
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DiGeorge Syndrome
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Digestive System Abnormalities
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Disorder of Sex Development, 46,XY
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Disorders of Sex Development
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Distal Myopathies
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Double Outlet Right Ventricle
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Down Syndrome
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Duane Retraction Syndrome
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Ductus Arteriosus, Patent
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Dwarfism
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Dysautonomia, Familial
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Dyskeratosis Congenita
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Dysplastic Nevus Syndrome
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Dystonia Musculorum Deformans
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Ebstein Anomaly
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Ectodermal Dysplasia
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Ectodermal Dysplasia 1, Anhidrotic
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Ectopia Lentis
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Ehlers-Danlos Syndrome
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Eisenmenger Complex
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Elliptocytosis, Hereditary
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Ellis-Van Creveld Syndrome
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Encephalocele
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Endocardial Cushion Defects
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Epidermolysis Bullosa
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Epidermolysis Bullosa Acquisita
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Epidermolysis Bullosa Dystrophica
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Epidermolysis Bullosa, Junctional
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Epidermolysis Bullosa Simplex
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Epilepsy, Benign Neonatal
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Epispadias
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Equinus Deformity
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Erythroblastosis, Fetal
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Esophageal Atresia
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Exostoses, Multiple Hereditary
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Eye Abnormalities
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Eye Diseases, Hereditary
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Fabry Disease
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Factor V Deficiency
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Factor VII Deficiency