User:Y-S.Ko/Wikipedia course/Diseases/Congenital

Congenital malformations and deformations of nervous system

Neural tube defect	Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation
Other	Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Agenesis of the corpus callosum Septo-optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria

Spinal cord

Neural tube defect	Spina bifida Rachischisis
Other	Currarino syndrome Diastomatomyelia Syringomyelia

Congenital malformations and deformations of eyes

Adnexa

Eyelid	Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon
Lacrimal apparatus	Congenital lacrimal duct obstruction

Globe

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) Microphthalmia
Lens	Ectopia lentis Aphakia
Iris	Aniridia
Anterior segment	Axenfeld–Rieger syndrome
Cornea	Keratoglobus Megalocornea Cornea plana 1 Cornea plana 2
Retina	Megalopapilla
Other	Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease

v t e Congenital malformations and deformations of ears
Size	Macrotia Microtia Anotia
Position	Low-set ears
Other	Accessory auricle Mondini dysplasia

v t e Congenital malformations and deformations of face and neck
Face	jaw: Otocephaly mouth: Macrostomia Microstomia lip: Macrocheilia Microcheilia chin: Microgenia multiple/other: Hallermann–Streiff syndrome Branchial cleft cyst
Neck	Webbed neck
Ungrouped	Preauricular sinus and cyst

Congenital heart defects

Heart septal defect

Aortopulmonary septal defect	Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window
Atrial septal defect	Sinus venosus atrial septal defect Lutembacher's syndrome
Ventricular septal defect	Tetralogy of Fallot
Atrioventricular septal defect	Ostium primum
Consequences	Cardiac shunt Cyanotic heart disease Eisenmenger syndrome

Valvular heart disease

Right	pulmonary valves stenosis insufficiency absence tricuspid valves atresia regurgitation stenosis Ebstein's anomaly
Left	aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation

Other

Underdeveloped heart chambers
- right
- left
- Uhl anomaly
Dextrocardia
Levocardia
Cor triatriatum
Crisscross heart
Brugada syndrome
Coronary artery anomaly
Anomalous aortic origin of a coronary artery
Ventricular inversion

Congenital vascular defects / Vascular malformation

Great arteries/
other arteries

Aorta	Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring
Pulmonary artery	Pulmonary atresia Stenosis of pulmonary artery
Subclavian artery	Aberrant subclavian artery
Umbilical artery	Single umbilical artery

Great veins

Superior/inferior vena cava	Congenital stenosis of vena cava Persistent left superior vena cava
Pulmonary vein	Anomalous pulmonary venous connection (Total, Partial) Scimitar syndrome

Arteriovenous malformation

Cerebral arteriovenous malformation

Congenital malformations and deformations of respiratory system

Upper RT

Nose	Choanal atresia Arrhinia
Larynx	Laryngeal cyst Laryngocele Laryngomalacia

Lower RT

Trachea and bronchus	Tracheomalacia Tracheal stenosis Bronchomalacia Tracheobronchomegaly
Lung	Bronchiectasis Pulmonary hypoplasia Pulmonary sequestration Congenital cystic adenomatoid malformation

Congenital malformations and deformations of digestive system

Upper GI tract

Tongue, mouth and pharynx	Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia
Esophagus	EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E Esophageal inlet patch esophageal rings Esophageal web (upper) Schatzki ring (lower)
Stomach	Pyloric stenosis Hiatus hernia

Lower GI tract

Intestines	Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst
Rectum/anal canal	Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia

Accessory

Pancreas	Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum
Bile duct	Choledochal cysts Caroli disease Biliary atresia
Liver	Alagille syndrome Polycystic liver disease

Female and male congenital anomalies of the genitalia, including intersex and DSD

Internal

Uterine malformation

Vagina

Gonads

Testicle	Cryptorchidism Polyorchidism Monorchism Sertoli cell-only syndrome
Ovary	XX gonadal dysgenesis Unilateral ovarian agenesis
Other	Gonadal agenesis Ovotesticular syndrome Mixed gonadal dysgenesis XY gonadal dysgenesis

Vas deferens

Congenital absence of the vas deferens

Other

Persistent Müllerian duct syndrome

External

Penis	Hypospadias Epispadias Chordee Micropenis Aphallia Diphallia Penoscrotal transposition
Other	Clitoromegaly Progestin-induced virilization Pseudohermaphroditism True hermaphroditism

Female and male congenital anomalies of the genitalia, including intersex and DSD

Internal

Uterine malformation

Vagina

Gonads

Testicle	Cryptorchidism Polyorchidism Monorchism Sertoli cell-only syndrome
Ovary	XX gonadal dysgenesis Unilateral ovarian agenesis
Other	Gonadal agenesis Ovotesticular syndrome Mixed gonadal dysgenesis XY gonadal dysgenesis

Vas deferens

Congenital absence of the vas deferens

Other

Persistent Müllerian duct syndrome

External

Penis	Hypospadias Epispadias Chordee Micropenis Aphallia Diphallia Penoscrotal transposition
Other	Clitoromegaly Progestin-induced virilization Pseudohermaphroditism True hermaphroditism

Congenital malformations and deformations of urinary system

Abdominal

Kidney	Renal agenesis Renal hypoplasia Potter sequence Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome
Ureter	Ectopic ureter Megaureter Duplicated ureter

Pelvic

Bladder	Bladder exstrophy
Urethra	Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition

Both

Prune belly syndrome

Vestigial

Urachus	Urachal cyst Urachal fistula Urachal sinus

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality

Appendicular
limb / dysmelia

Arms

clavicle / shoulder	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip	Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara
knee	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb
reduction deficits / limb	Acheiropodia Ectromelia Phocomelia Amelia Hemimelia
multiple joints	Arthrogryposis Larsen syndrome RAPADILINO syndrome

Axial

Skull and face

Craniosynostosis	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Oto-palato-digital syndrome Treacher Collins syndrome
other	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum
other:	Poland syndrome

Osteochondrodysplasias

Osteodysplasia/
osteodystrophy

Diaphysis	Camurati–Engelmann disease
Metaphysis	Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia
Epiphysis	Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia
Osteosclerosis	Raine syndrome Osteopoikilosis Osteopetrosis
Other/ungrouped	FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome

Chondrodysplasia/
chondrodystrophy
(including dwarfism)

Osteochondroma

osteochondromatosis
- Hereditary multiple exostoses

Chondroma/enchondroma

enchondromatosis
- Ollier disease
- Maffucci syndrome

Growth factor receptor

FGFR2:	Antley–Bixler syndrome
FGFR3:	Achondroplasia Hypochondroplasia Thanatophoric dysplasia

COL2A1 collagen disease

SLC26A2 sulfation defect

Chondrodysplasia punctata

Other dwarfism

v t e Congenital diaphragm and abdominal wall defects, abdominopelvic cavity
Thoracic diaphragm	Hernia Congenital diaphragmatic hernia Bochdalek hernia
Abdominal wall	Omphalocele Gastroschisis Prune belly syndrome

Congenital malformations and deformations of integument / skin disease

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris
AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome CHIME syndrome Sjögren–Larsson syndrome
XR	X-linked ichthyosis
Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

JEB

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK

syndromic

ungrouped: Palmoplantar keratoderma and spastic paraplegia
desmoplakin
- Carvajal syndrome
connexin
- Erythrokeratodermia variabilis
- HID/KID

Other

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii
Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae
Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

v t e Congenital malformations and deformations of skin appendages
Nail disease	Anonychia Leukonychia Pachyonychia congenita/Onychauxis Koilonychia
Hair disease	hypotrichosis/abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis: Zimmermann–Laband syndrome

v t e Congenital malformations and deformations of the breast
Breast	Amastia Polymastia Micromastia Symmastia Tuberous breasts
Nipple	Athelia Polythelia

Chromosome abnormalities

Autosomal

Duplications,
including trisomies

Deletions

genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)

Distal 18q-/Proximal 18q-

X/Y linked

Monosomies	Turner syndrome (45,X)
Trisomies/tetrasomies, other karyotypes/mosaics	Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) XXXYY syndrome (49,XXXYY) XXXXY syndrome (49,XXXXY) Trisomy X (47,XXX) Tetrasomy X (48,XXXX) Pentasomy X (49,XXXXX) XYY syndrome (47,XYY) XYYY syndrome (48,XYYY) XYYYY syndrome (49,XYYYY) 45,X/46,XY 46,XX/46,XY

Translocations

Leukemia/lymphoma

Lymphoid	Burkitt lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large-cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia
Myeloid	Philadelphia chromosome t(9 ABL; 22 BCR) Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) Acute promyelocytic leukemia t(15 PML,17 RARA) Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing sarcoma t(11 FLI1; 22 EWS)
Synovial sarcoma t(x SYT;18 SSX)
Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
Myxoid liposarcoma t(12 DDIT3; 16 FUS)
Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other

v t e Lymphatic disease: organ and vessel diseases
Thymus	Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma
Spleen	Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splenomegaly Banti's syndrome Splenic infarction Splenic tumor
Lymph node	Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils see Template:Respiratory pathology
Lymphatic vessels	Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease

v t e Congenital endocrine disorders
Pituitary	Congenital hypopituitarism
Thyroid	Thyroid disease Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome
Parathyroid	Congenital absence of parathyroid
Adrenal	Absent adrenal gland

v t e Twin conditions
Zygosity	Twin
Monochorionic twins	Twin-to-twin transfusion syndrome Twin reversed arterial perfusion Monoamniotic twins
Conjoined twins	Parasitic twin Craniopagus parasiticus Fetus in fetu
Other	Vanishing twin Chimerism Mixed twins

v t e Phakomatosis
Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease
Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease
Neurofibromatosis	Type I Type II
Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

Conditions originating in the perinatal period / fetal disease

Maternal factors
complicating pregnancy,
labour or delivery

placenta	Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome
chorion/amnion	Chorioamnionitis
umbilical cord	Umbilical cord prolapse Nuchal cord Single umbilical artery
presentation	Breech birth Asynclitism Shoulder presentation

Growth

Birth trauma

Affected systems

Respiratory	Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia
Cardiovascular	Pneumopericardium Persistent fetal circulation
Bleeding and hematologic disease	Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity
Gastrointestinal	Ileus Necrotizing enterocolitis Meconium peritonitis
Integument and thermoregulation	Erythema toxicum Sclerema neonatorum
Nervous system	Perinatal asphyxia Periventricular leukomalacia
Musculoskeletal	Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia

Infections

Other

v t e Congenital malformation due to substance exposure
Fetal alcohol spectrum disorder Fetal hydantoin syndrome Fetal warfarin syndrome Prenatal cocaine exposure