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Congenital Abnormalities

Brain & central nervous system (nervous system) Circulatory System Digestive System Endocrine System Integumentary system Lymphatic (immune) system Muscular system Reproductive System Respiratory System Skeletal System Urinary system

Congenital Abnormalities

Brain & central nervous system (nervous system)

Acalvaria Acrania Agenesis of the corpus callosum Anencephaly Chiari malformation Cebocephaly Central nervous system cyst Cephalic disorder Cerebellar agenesis Cerebellar hypoplasia Cerebellar hypoplasia (non-human) Congenital bilateral perisylvian syndrome Congenital dermal sinus Congenital insensitivity to pain Congenital myasthenic syndrome Cranioschisis Currarino syndrome Dandy–Walker syndrome Diastematomyelia Encephalocele Exencephaly Hemihydranencephaly Holoprosencephaly Hydranencephaly Hydrocephalus Iniencephaly Irregular sleep–wake rhythm Knobloch syndrome Lissencephaly Marcus Gunn phenomenon Megalencephaly Microcephaly Microgyrus Microhydranencephaly Neural tube defect Pachygyria Polymicrogyria Porencephaly Rachischisis Schizencephaly Septo-optic dysplasia Spina bifida Sturge–Weber syndrome Syringomyelia Syrinx (medicine) Vein of Galen aneurysmal malformations VLDLR-associated cerebellar hypoplasia Circulatory System Congenital heart defects Congenital vascular defects Levocardia/Dextrocardia/situs solitus, situs inversus Congenital heart defects Acyanotic heart defect Anomalous aortic origin of a coronary artery Aortopulmonary septal defect Aortopulmonary window Atrial septal defect Atrioventricular septal defect Baffle (medicine) Bicuspid aortic valve Blalock–Taussig shunt Congenital heart defect Cor triatriatum Crisscross heart Cyanotic heart defect Damus–Kaye–Stansel procedure Dextro-Transposition of the great arteries Dextrocardia Double inlet left ventricle Double outlet right ventricle Ebstein's anomaly Ectopia cordis Fontan procedure Glenn procedure GUCH Heart septal defect Holmes heart Hypoplastic left heart syndrome Hypoplastic right heart syndrome Interrupted aortic arch Kawashima procedure Levo-Transposition of the great arteries Lutembacher's syndrome McGillivray syndrome Noncompaction cardiomyopathy Noonan syndrome Norwood procedure Ostium primum atrial septal defect Overriding aorta Patent ductus arteriosus Persistent truncus arteriosus Quadricuspid aortic valve Rastelli procedure Sakati–Nyhan–Tisdale syndrome Scimitar syndrome Sinus venosus atrial septal defect Taussig–Bing syndrome Tetralogy of Fallot Transposition of the great vessels Tricuspid atresia Trilogy of Fallot Uhl anomaly Ventricular inversion Ventricular outflow tract obstruction Ventricular septal defect Template:Congenital heart defects Congenital vascular defects Aberrant subclavian artery Aneurysm of sinus of Valsalva Anomalous left coronary artery from the pulmonary artery Anomalous pulmonary venous connection Arteriovenous malformation Cerebral arteriovenous malformation Coarctation of the aorta Congenital stenosis of vena cava Double aortic arch Persistent left superior vena cava Pulmonary atresia RASopathy Right-sided aortic arch Single umbilical artery Stenosis of pulmonary artery Vascular ring Vein of Galen aneurysmal malformations Digestive System Accessory pancreas Aglossia Alagille syndrome Annular pancreas Bile duct hamartoma Biliary atresia Choledochal cysts Dolichocolon Duodenal atresia Enteric duplication cyst Esophageal atresia Esophageal web Familial cirrhosis Fundic gland polyposis Gastric atresia Hereditary pancreatitis Hiatus hernia Hirschsprung's disease Hypoglossia Imperforate anus Intestinal atresia Intestinal malrotation Johanson–Blizzard syndrome Macroglossia Meckel's diverticulum Neonatal bowel obstruction Pancreas divisum Pyloric stenosis Rectovestibular fistula Schatzki ring Tracheoesophageal fistula Endocrine System Absent adrenal gland Congenital estrogen deficiency Congenital hypothyroidism Pendred syndrome Persistent thyroglossal duct Thyroglossal cyst Thyroid dysgenesis Thyroid dyshormonogenesis Integumentary system Accessory nail of the fifth toe Accessory nipple Accessory auricle ADAM complex Adermatoglyphia Amniotic band constriction Amniotic band sequence Angiokeratoma circumscriptum naeviforme Aplasia cutis congenita Arteriovenous fistula Benign neonatal hemangiomatosis Brain-like heterotopia Branchial cleft cyst Branchial cyst Bronchogenic cyst Calcifying epithelioma of Malherbe Capillary hemangioma Cavernous venous malformation Cephalic brain-like heterotopia Cervical accessory tragus Congenital absence of skin Congenital auricular fistula Congenital cartilaginous rest of the neck Congenital constriction bands Congenital dermal melanocytosis Congenital dermal sinus Congenital erosive and vesicular dermatosis Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital non-progressive hemangioma Congenital preauricular fistula Congenital sinus of the lower lip Congenital smooth muscle hamartoma Cutis aplasia Cystic lymphatic malformation Dermal melanocytosis Dermoid cyst Diffuse neonatal hemangiomatosis Dyschromia Ear pit Ear tag (medicine) Focal facial dermal dysplasia Glial hamartoma Hemangiomatosis Heterotopic neuroglial tissue Hutchinson's teeth Hyperkeratotic cutaneous capillary-venous malformation Infantile hemangioma Intrauterine epidermal necrosis Limb–mammary syndrome Lip sinus Lowry–MacLean syndrome Lymphangioma circumscriptum Macrocheilia Malherbe calcifying epithelioma Malignant pilomatricoma Maternal autoimmune bullous disease Median raphe cyst Membranous aplasia cutis Draft:Michel aplasia Microcystic lymphatic malformation Midline cervical cleft Midline sinus of the upper lip Mongolian spot Mulberry molar Nager acrofacial dysostosis Nasal cerebral heterotopia Nasal glioma Nasal heterotopic brain tissue Nasolacrimal duct cyst Nevus maternus Nevus psiloliparus Non-involuting congenital hemangioma Omphalomesenteric duct cyst Omphalomesenteric duct remnant PELVIS syndrome PHACES syndrome PHACES Syndrome Pilomatrical carcinoma Pilomatricoma Pilomatrix carcinoma Pilomatrixoma Preauricular appendage Preauricular cyst Preauricular sinus and cyst Preauricular tag Pseudoainhum Pseudomamma Rapidly involuting congenital hemangioma Rhagades Rosenthal–Kloepfer syndrome Rudimentary polydactyly SACRAL syndrome Sinus pericranii Skin dimple Skin fossa Strawberry hemangioma Strawberry nevus Supernumerary nipple Thyroglossal cyst Vitelline cyst Wattle (dermatology) Lymphatic (immune) system Lymphatic malformations Lymphedema Lymphangioma Muscular system Abdominal wall defect Absence of gluteal muscle Acheiropodia Amelia (birth defect) Aphalangia Arachnodactyly Arthrogryposis Bifid rib Bipartite patella Bochdalek hernia Brachycephaly Brachydactyly Cenani–Lenz syndactylism Cervical rib Cleidocranial dysostosis Clinodactyly Club foot Congenital amputation Congenital clasped thumb Congenital dermal sinus Congenital diaphragmatic hernia Congenital limb deformities Congenital trigger thumb Congenital vertebral anomaly Coxa valga Coxa vara Craniodiaphyseal dysplasia Craniofacial abnormality Cranioschisis Craniosynostosis Crouzon syndrome Crouzonodermoskeletal syndrome Cubitus valgus Cubitus varus Dactyly Diplopodia Dislocation of hip Dolichocephaly Dysmelia Dysostosis Ectrodactyly Ectromelia Fibular hemimelia Flat feet Floating–Harbor syndrome Foot deformity Franceschetti–Klein syndrome Gastroschisis Genu valgum Genu varum Glossoptosis Gorham's disease Greig cephalopolysyndactyly syndrome Hallermann–Streiff syndrome Hammer toe Hand deformity Hanhart syndrome Hemimelia Hernia Hip dysplasia Hypertelorism Hypocementosis Hypodactylia Infantile systemic hyalinosis Klippel–Feil syndrome Kyphoscoliosis Kyphosis Larsen syndrome Limb body wall complex Lordosis Macrocephaly Macrognathism Madelung's deformity Metopism Musculoskeletal abnormality Oligodactyly Omphalocele Ortolani test Template:Osteochondrodysplasia Oxycephaly Pectus carinatum Pectus excavatum Pes cavus Phocomelia Pierre Robin syndrome Plagiocephaly Platybasia Poland syndrome Polydactyl c Polydactyly Polysyndactyly Proximal femoral focal deficiency Prune belly syndrome Rachischisis Radial dysplasia Raine syndrome Rapadilino syndrome Rhizomelia Rocker bottom foot Saddle nose Say–Meyer syndrome Scaphocephaly Schmitt Gillenwater Kelly syndrome Schooliosis Scoliosis Spina bifida Spondylolisthesis Sprengel's deformity Swayback Symbrachydactyly Syndactyly Syngnathia Synostosis Synpolydactyly Thumb hypoplasia Treacher Collins syndrome Trevor disease Trigonocephaly Tsukuhara syndrome Upington disease Wallis–Zieff–Goldblatt syndrome Wassel classification Webbed toes Reproductive System Genital Anomalies Anomalies in Males Penile agenesis Penile duplication Microphallus Penile torsion Lateral penile curvature Penoscrotal transposition Webbed and buried penis Megaprepuce Scrotal agenesis Ectopic and accessory scrotum Splenogonadal fusion Anomalies in Females Labial adhesion Ectopic labium and clitoral duplication Clitoral hypertrophy Interlabial masses Urethral prolapse Prolapsed ectopic ureterocele Hydrocolpos or hydrometrocolpos Sarcoma botryoides or rhabdomyosarcoma Periurethral cyst Persistent urogenital sinus and cloaca Respiratory System Arrhinia Azygos lobe Bronchiectasis Bronchomalacia Choanal atresia Congenital pulmonary airway malformation Laryngeal cyst Laryngocele Laryngomalacia Neuroendocrine hyperplasia Pulmonary hypoplasia Pulmonary sequestration Subglottic stenosis Tracheal agenesis Tracheobronchomalacia Tracheobronchomegaly Tracheomalacia Skeletal System Abdominal wall defect Absence of gluteal muscle Acheiropodia Amelia (birth defect) Aphalangia Arachnodactyly Arthrogryposis Bifid rib Bipartite patella Bochdalek hernia Brachycephaly Brachydactyly Cenani–Lenz syndactylism Cervical rib Cleidocranial dysostosis Clinodactyly Club foot Congenital amputation Congenital clasped thumb Congenital dermal sinus Congenital diaphragmatic hernia Congenital limb deformities Congenital trigger thumb Congenital vertebral anomaly Coxa valga Coxa vara Craniodiaphyseal dysplasia Craniofacial abnormality Cranioschisis Craniosynostosis Crouzon syndrome Crouzonodermoskeletal syndrome Cubitus valgus Cubitus varus Dactyly Diplopodia Dislocation of hip Dolichocephaly Dysmelia Dysostosis Ectrodactyly Ectromelia Fibular hemimelia Flat feet Floating–Harbor syndrome Foot deformity Franceschetti–Klein syndrome Gastroschisis Genu valgum Genu varum Glossoptosis Gorham's disease Greig cephalopolysyndactyly syndrome Hallermann–Streiff syndrome Hammer toe Hand deformity Hanhart syndrome Hemimelia Hernia Hip dysplasia Hypertelorism Hypocementosis Hypodactylia Infantile systemic hyalinosis Klippel–Feil syndrome Kyphoscoliosis Kyphosis Larsen syndrome Limb body wall complex Lordosis Macrocephaly Macrognathism Madelung's deformity Metopism Musculoskeletal abnormality Oligodactyly Omphalocele Ortolani test Template:Osteochondrodysplasia Oxycephaly Pectus carinatum Pectus excavatum Pes cavus Phocomelia Pierre Robin syndrome Plagiocephaly Platybasia Poland syndrome Polydactyl c Polydactyly Polysyndactyly Proximal femoral focal deficiency Prune belly syndrome Rachischisis Radial dysplasia Raine syndrome Rapadilino syndrome Rhizomelia Rocker bottom foot Saddle nose Say–Meyer syndrome Scaphocephaly Schmitt Gillenwater Kelly syndrome Schooliosis Scoliosis Spina bifida Spondylolisthesis Sprengel's deformity Swayback Symbrachydactyly Syndactyly Syngnathia Synostosis Synpolydactyly Thumb hypoplasia Treacher Collins syndrome Trevor disease Trigonocephaly Tsukuhara syndrome Upington disease Wallis–Zieff–Goldblatt syndrome Wassel classification Webbed toes Urinary system Bladder exstrophy Template:Congenital malformations of urinary system Dent's disease Ectopic ureter Epispadias Horseshoe kidney Hypospadias Meckel syndrome Medullary sponge kidney Megaureter Multicystic dysplastic kidney Nephronophthisis Papillorenal syndrome Pelvic kidney Polycystic kidney disease Posterior urethral valve Potter sequence Preureteric vena cava Prune belly syndrome Renal agenesis Renal ectopia Umbilical-urachal sinus Urachal cyst Urachal fistula Congenital malformation due to exogenous toxicity Fetal alcohol spectrum disorder Fetal hydantoin syndrome Fetal warfarin syndrome Prenatal cocaine exposure Congenital disorders of genital organs Aphallia Congenital anomalies of the genitalia Disorders of sex development McGillivray syndrome Pseudohermaphroditism Splenogonadal fusion XY gonadal dysgenesis True hermaphroditism Congenital disorders of breasts Accessory breast Amastia Amazia Athelia (disease) Micromastia Supernumerary nipple Symmastia Tuberous breasts Template:Congenital malformations and deformations of breast Congenital disorders of eye, ear, face and neck Floating–Harbor syndrome Frontonasal dysplasia Hallermann–Streiff syndrome Macrocheilia Macrostomia McGillivray syndrome Microcheilia Microgenia Microstomia Mondini dysplasia Otocephaly Otofacial syndrome Sturge–Weber syndrome Webbed neck Congenital malformations and deformations of face and neck Q18.0 Sinus, fistula and cyst of branchial cleft Branchial vestige Q18.1 Preauricular sinus and cyst Fistula (of): • auricle, congenital • cervicoaural Pretragal sinus and cyst Q18.2 Other branchial cleft malformations Branchial cleft malformation NOS Cervical auricle Otocephaly Q18.3 Webbing of neck Pterygium colli Q18.4 Macrostomia Q18.5 Microstomia Q18.6 Macrocheilia Hypertrophy of lip, congenital Q18.7 Microcheilia Q18.8 Other specified congenital malformations of face and neck Medial: • cyst • fistula • sinus of face and neck Q18.9 Congenital malformation of face and neck, unspecified Congenital anomaly NOS of face and neck Alphabetical list of facts List of congenital disorders Albinism Amelia and hemimelia Amniotic Band syndrome Anencephaly Angelman syndrome Aposthia Arnold-Chiari malformation Bannayan-Zonana syndrome Bardet-Biedl syndrome Barth syndrome Basal Cell Nevus syndrome Beckwith-Wiedemann syndrome Benjamin syndrome Bladder exstrophy Bloom syndrome Cat Eye syndrome Caudal regression syndrome Sotos syndrome Cerebral Gigantism CHARGE syndrome Chromosome 16 Abnormalities Chromosome 18 Abnormalities Chromosome 20 Abnormalities Chromosome 22 Abnormalities Cleft lip/palate Cleidocranial dysostosis Club foot Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome Congenital Diaphragmatic Hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins Costello syndrome Craniopagus parasiticus Cri du chat syndrome Cyclopia Cystic fibrosis De Lange syndrome Diphallia Distal Trisomy 10q Down syndrome Ectodermal Dysplasia Ectopia cordis Ectrodactyly Encephalocele Fetal Alcohol Syndrome Fetofetal Transfusion First arch syndrome Freeman-Sheldon syndrome Gastroschisis Goldenhar syndrome Harlequin type ichthyosis Heart disorders (Congenital heart defects) Hemifacial Microsomia Holoprosencephaly Huntington's disease Hirschsprung's Disease, or congenital aganglionic megacolon Hypoglossia Hypomelanism or hypomelanosis (albinism) Hypospadias Haemophilia Heterochromia Hemochromatosis Imperforate anus Incontinentia pigmenti Intestinal neuronal dysplasia Ivemark syndrome Jacobsen syndrome Katz syndrome Klinefelter syndrome Kabuki syndrome Larsen syndrome Laurence-Moon syndrome Lissencephaly Marfan syndrome Microcephaly Microtia Monosomy 9p- Myasthenic Syndrome Myelokathexis Nager's Syndrome Nail-Patella syndrome Neonatal Jaundice Neurofibromatosis Neuronal Ceroid-Lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Pallister-Killian syndrome Pectus Excavatum Pectus Carinatum Pierre Robin syndrome Poland Syndrome Polydactyly Prader-Willi syndrome Proteus syndrome Prune belly syndrome Radial aplasia Rett syndrome Robinow syndrome Rubinstein-Taybi syndrome Saethre-Chotzen syndrome Schizencephaly Sirenomelia Situs inversus Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Spina bifida Strabismus Sturge-Weber syndrome Syphilis, Congenital Teratoma Treacher Collins syndrome Trichothiodystrophy Triple-X Females Trisomy 13 Trisomy 9 Turner syndrome Umbilical hernia Usher syndrome Waardenburg's syndrome Werner syndrome Wolf-Hirschhorn syndrome Wolff-Parkinson-White syndrome

Last Updated: April 9, 2017