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