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Congenital anomalies with genetic conditions
Check CVS anomalies       Clinical congenital anomalies (recommended for revision)     Molecular biology of genetic conditions
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Aarskog syndrome
Abberant renal artery
Abdominal cyst, transient 
Abnormal intrahepatic vascular connections- e.g. congenital portosystemic shunts
Absence of body
Absence of fallopian tube
Absence of fibula 
Absence of hymen
Absence of incisors
Absence of macula lutea
Absence of vagina
Acatalasia
Acholuric jaundice
Achondrogenesis 
Achondroplasia
Acrania 
Acrocephalopolysyndactyly 
Acrodermatitis enteropathica
Acromesomelic dysplasia
Adherent ear lobes
Adrenogenital syndrome   click here
Afribrinogenaemia
Agammaglobinaemia
Agenesis of lungs
Agenesis of the corpus callosum 
Agnathia-Synotia-Microstomia syndrome
Aicardi
Albinism
Alkaline phosphate deficiency
Alkaptonuria
Allantoic cyst
Alopecia areata
Alpha 1-antitrypsin deficiency
Alzheimer's disease
Ambiguous female external genitalia
Ambiguous male external genitalia
Amelia
Amnion rupture
Amniotic band syndrome 
Amyoplasia
Anasarca
Anemia, sickle cell
Anencephaly
Aneurysm (diverticulum) of right ventricle
Aneurysm of left ventricle
Angelman syndrome
Angioneurotic oedema
Anidrotic ectodermal dysphasia
Aniridia
Anomalies of the iris
Anomalous left coronary 
Anomalous left coronary artery
Anomalous left pulmonary artery
Anomalous left pulmonary artery
Anonychia
Anophthalmia plus syndrome
Anophthalmos
Anotia
Anti-E sensibilization anemia
Anti-Kelly isommunization skin edema
Antley-Bixler syndrome
Aortic aneurysm
Aortic arch interruption
Aortic arch interruption 
Aortic atresia
Aortic calcinosis, ultrasound
Aortic incompetence
Aortic regurgitation
Aortic stenosis
Aortic stenosis and atresia
Aortico-pulmonary window
Apert syndrome 
Apical dystrophy of fingers
Aplasia cutis congenita
Aqueductal stenosis
Arachnodactyly
Arachnoid cyst 
Argininosuccinic aciduria
Arginosuccinic aciduria, ultrasound
Arnold Chiari malformation, ultrasound
Anomalous left coronary artery
Arthrogryposis multiplex congenita
Ascites
Asthma
Asphyxiating thoracic dysplasia 
Asplenia-polysplenia syndromes
Ataxia telangectasia
Atelosteogenesis
Atheroma
Atherosclerosis
Atopic disease allergy
Atresia of ductal system (vagina, uterus etc)
Atresia of small intestine
Atrial septal aneurysm, ultrasound
Atrial septal defect
Atrial septal defect-   ostium primum
Atrial septal defect- foramen ovale (persistent foramen ovale)
Atrial septal defect- foramen  ovale
Atrial septal defect -ostium secundum
Atriovenous septal defect, ultrasound
Atrioventricular hypertrophy
Auditory nerve atrophy
Auricular appendages
Auricular fistulas
Battledore placenta
Beckwith-Wiedemann syndrome
Benign cystic epithelioma
Beta-metacaptolactate-cysteine disulphiduria
Bicornuate uterus
Bicuspid aortic valve
Bicuspid aortic valve , ultrasound
Bifid uvula
Bilateral hare lip and cleft palate
Biliary tract atresia
Biloculare
Binder syndrome
Blindness, Total
Blooms syndrome
Blue or grey eyes
Bochdalek, Foramen of 
Brachydactyly
Brachymorphia with spherophakia
Branchial cyst
Branchial fistula
Broad thumb-hallux syndrome
Bronchial atresia
Bronchogenic cyst
Bullous eruption of feet
Buphthalmos (congenital glaucoma)
Burkitt's lymphoma
Campomelic dysplasia
Canavan disease
Canities praematura
Capillary hemangiomata:
Cardiac fibroma
Cardiac rhabdomyoma
Carnosinaemia
Cataract
Caudal regression syndrome
Cavernous hemangiomata
Cavum vergae 
Cephalocele 
Cerebellar hemihypoplasia 
Cerebro-costo-mandibular syndrome 
Cerebrohepatorenal syndrome
Cerebro-oculo-facial skeletal  (COFS) syndrome
Cervical chondrocutaneous branchial remnants
Cervical teratoma
Chiari network, ultrasound
Choanal atresia
Choledochal cyst 
Cholinesterase control
Chondrodysplasia punctata 
Chorioangioma
Choroideraemia
Christmas disease
Chronic granulomatous disease
Chronic hypochromic anaemia
Chylothorax 
Citrullinaemia
Cleft lip
Cleft lip
Cleft nose
Cleft palate 1
Cleft palate 2
Cleft palate 3
Cleidocranial dysostosis
Cloacal dysgenesis 
Cloverleaf skull or kleeblattschädel
Club foot
Coarctation of aorta, ultrasound
Coarctation of aorta
Coarctation of umbilical cord
Coloboma
Colon, aganglionosis
Colour blindness, Total
Colpocephaly
Common atrium
Congenital adrenal hyperplasia
Congenital amputee
Congenital cataract
Congenital chloride diarrhea
Congenital constriction bands
Congenital cretin
Congenital diaphragmatic hernia
Congenital extrophy of bladder
Congenital femoral hernia
Congenital fibrosarcoma 
Congenital gangrene
Congenital glaucoma
Congenital icthyosis 
Congenital inguinal hernia
Congenital intestinal stenosis
Congenital intusscuception
Congenital laryngeal stridor
Congenital lobar adenomatosis 
Congenital myopathies
Congenital pleural effusion
Congenital polycystic kidneys
Congenital porphyria
Congenital sodium diarrhea
Congenital syphilis
Cor biloculare
Cor triloculare
Cornelia de Lange syndrome
Coronary arteriosclerosis
Cranial meningocele
Craniorachischisis
Cranioschisis
Cretinism (goitrous)
Cri du chat syndrome
Criggler-Najjar syndrome
Crouzon's disease
Crohn's disease
Cryptophthalmos
Cryptorchidism
Cumming syndrome
Cup shaped ear
Curly straight, wavy hair in Europeans
Currarino syndrome
Cyclopia
Cystathioninuria
Cystic adenomatoid malformation 
Cystic fibrosis
Cystic heterotopic brain tissue
Cystic hygroma
Cystic teratoma
Cystinosis
Cystinuria
Dacryocystocele 
Dactylitis
Dandy Walker malformation
Darier’s disease
Dark brown eye colour
Darwinian tubercle
De Lange syndrome
Deaf-mutism
Deafness, Congenital
Deep acetabulum of pelvis
Defective enamel of teeth
Dermatographia
Dextrocardia
Dextrocardia, ultrasound
Diabetes insipidus
Diabetes mellitus
Diaphragmatic eventration
Diaphragmatic hernia
Diaphyseal aclasis
Diastrophic dysplasia
DiGeorge syndrome (Interrupted aortic arch with thymic hypoplasia)
Disseminated sclerosis
Double ductal system (uterus vagina etc)
Double external acoustic meatus
Double inlet single ventricle, ultrasound
Double inlet single ventricle 
Double outlet syndrome, ultrasound
Double ureters
Double-outlet right ventricle
Down's syndrome
Down's syndrome
Down's syndrome with atrial septal defect
Duchenne muscular dystrophy
Ductus venosus agenesis
Duodenal atresia
Dysmelia
Dysplastic ear
Dysplastic kidneys
Dyssegmental dysplasia of the Silverman
Dystrophic epidermolysis
Ear cleft
Ear lobe groove
Ear lobe malformation
Ebstein's anomaly, ultrasound
Ebstein's anomaly
Echogenic kidneys 
Echogenic lung mass 
Ectopia cordis
Ectopia vesicae
Ectopic kidneys
Ectopic pregnancy
Edward's syndrome
Ehlers Danlos syndrome
Eisenmenger's complex
Elfin ear
Elliptocytosis
Ellis-van Creveld syndrome 
Embryology quick scan
Encephalocele
Endocardial cushion and ostium primum defects
Endocardial fibroelastosis, ultrasound
Endocardial fibroelastosis 
Epicanthus
Epidermal scalp cyst
Epidermolysis bullosa
Epignathus
Epilepsy
Epiloia
Epispadias
Epulis
Erythraemia
Esophageal atresia
Essential hypertension
Eustachian valve
Exomphalos
Exomphalos
Exstrophy of cloaca
Exstrophy of urinary bladder
External angular dermoid
Fabry disease
Facial teratoma
Facio-scapulo-humeral muscular dystrophy
False knots (umbilical cord)
Fanconi’s syndrome
Fetal alcohol syndrome
Fibrocystic disease (cystic fibrosis) of pancreas
First arch syndrome
Flat Nose
Flattened acetabulum
Foramen ovale, ultrasound
Fragile X syndrome
Fraser syndrome 
Freesia
Friedreich’s ataxia
Frontal bossing
Frontometaphyseal dysplasia
Fructosuria
Fryns syndrome
Fundus dystrophy
Fusion of deciduous teeth
Galactosaemia
Gargolysm
Gastric duplication cyst
Gastroschisis
Gastroschisis ultrasound
Gaucher’s disease
Genu recurvatum
Glaucoma
Glucose galactose malabsorption
Glucose 6 phosphate dehydrogenase deficiency
Glucose-6-phosphatase deficiency
Glycogen storage disease
Goiter
Goldenhar syndrome
Gout
Gout with hypercorticaemia
Grave’s disease
Habsburg jaw
Haemochromatosis
Haemophilia A
Haemophilia B
Haemorrhagic telengectasia
Hairy ears
Haptoglobulin-1
Haptoglobulin-2
Hare lip
Hare lip with or without cleft palate
Hartnup disease
Hearing impairment- Hereditary ; deafness
Heart-hand syndrome
Heberden’s nodes
Hemangioma
Hemifacial microsomia
Hemimelia, transverse
Hemoglobinopathy
Hemopericardium
Hemophilia
Hemophilia
Hepatic hemangioendothelioma
Hepatic tumors
Hereditary lymphedema
Hereditary nephritis
Hereditary telangiectasia
Heterotaxy
Hiatus hernia
High imperforate anus
Hirschprung’s disease
Histidinaemia
Holoprosencephaly-hypokinesia syndrome
Holt-Oram syndrome 
Homocystinuria
Horse-shoe kidney
Huntington’s chorea
Hurler’s syndrome
Hydranencepahly
Hydrocele
Hydrocephalus
Hydrocolpos
Hydrolethalus syndrome
Hydrops fetalis
Hydroxyprolinaemia
Hypercalcuria
Hyperechogenicity of heart
Hyperlysinaemia
Hyperoxaluria
Hyperphosphatasia
Hypersarcosinaemia
Hyper-ß-alaninaemia
Hypertelorism
Hypertension
Hypervalinaemia
Hypophosphataemia
Hypophosphatasia
Hypoplastic kidneys
Hypoplastic left heart syndrome
Hypoplastic right heart with pulmonary hypoplasia
Hypoprolinaemia
Hypospadias
Ichthyosis congenita
Ichthyosis vulgaris
Ileal atresia 
Imperfect ossification of membrane bones
Imperforate anus
Imperforate hymen
Inclusion dermoid
Incomplete albinism
Incontinentia pigmenti
Infantile amaurotic idiocy
Infrarenal aortic aneurysm
Infundibular stenosis
Inguinoscrotal hernia
Iniencephaly    
Interhemispheric cyst 
Intestinal hypoperistalsis
Intrapericardial teratoma
Intrapericardial teratoma 
Isoretinoin embryopathy
Isovaleric acidaemia
Jarcho-Levin syndrome 
Jaundice
Jejunal atresia
Joubert syndrome
Juvenial amaurotic idiocy
Keratodermia
Kippel-Trenaunay syndrome
Klippel Trenaunay-Weber syndrome
Klippel-Feil syndrome
Knee dislocation, partial deletion of chromosome 10
Kniest syndrome
Kommorell's diverticulum
Kwashiokor
Labial fusion
Labyrinthine deafness
Lacrimal duct stenosis
Lacrimal duct, congenital obstruction of
Large atrioventricular septal defect
Large intestinal atresia
Larsen - Bourbon syndrome
Larsen syndrome
Laryngeal atresia
Lawrence–Moon-Biedl syndrome
Leber’s disease
Left atrial appendage
Left heart syndrome
Left isomerism
Left isomerism of heart
Lesch-Nyhan syndrome
Lethal multiple pterygium syndrome
Leukemia, chronic myeloid
Limb body stalk anomaly
Lingual thyroid
Lipoid proteinosis
Lipoidosis of skin
Lipoma of the corpus callosum
Lissencephaly 
Long QT syndrome
Lop ear
Low set ear
Lung sequestration 
Lung tumors
Lymphangioma 
Lymphoedema
Machado Joseph syndrome
Macroglossia
Macrostomia
Macrotia
Macula coloboma
Maffuci's syndrome
Male pattern baldness
Male sex determination
Malrotation of the gut 
Mandibulofacial dystostosis
Maple syrup disease
Marasmic kwashiokor
Marasmus
Marfan’s syndrome
Marie’s cerebellar ataxia
Maxillo-Nasal dysplasia
McArdle’s syndrome
Measles
Meckel Gruber syndrome
Meckel’s diverticulum
Meconium peritonitis 
Mediastinal parathyroid gland
Mediastinal tumors
Megalourethra 
Megaureter 
Melotia
Membrane cyst
Meningocoele
Menkes syndrome
Mesoblastic nephroma
Mesocardia
Mesomelic dysplasia
Metatarsus varus
Metatrophic dysplasia
Methylmalonic aciduria
Microcephalic osteodysplastic primordial dwarfism
Microcephaly
Microcornea
Micrognathia
Micromelia
Microphthalmos
Microstomia
Microtia
Midphalaceal hair
Mild dystrophic epidermolysis
Minor rachydactyly
Misshapen ear
Missing incisors
Mitral atresia
Mitral incompetence, ultrasound
Mitral incompetence
Mitral stenosis
Mohr-Majewski spectrum 
Monilethrix
Morgagni, Foramen of 
Morquio’s disease
Mucocolpos
Multicystic kidney
Multiple cystic adenoma
Multiple endocrine neoplasia (MEN 1 and 2)
Multiple polypi of colon and rectum
Multiple sebaceous cysts
Muscular agenesis
Muscular dystrophy of childhood
Myoblastoma 
Myofibromatosis 
Myotonia congenita
Myotonia dystrophica
Nager syndrome
Nasal sinus infection (extreme)
Nasal skin tag
Nemaline myopathy
Neonatal Osseous Dysplasia
Nephrogenic diabetes insipidus 
Nephrosclerosis leading to essential hypertension
Neu-Laxova syndromes
Neurenteric cyst 
Neuroblastoma 
Neurofibromatosis leading to malignancy
Nevus flammeus
Niemann-Pick disease
Night blindness
Night blindness with myopia
Non-ketotic hyperglycinaemia
Noonan syndrome
Nuchal edema
Nystagmus
Obstructive uropathy resulting in urinoma formation
OEIS complex
Oesophageal atresia
Oguchi’s disease
Oligodactyly
Oligodactyly
Oligophrenia
Omphalocoele
Omphalomesenteric cyst
Opalescent dentine
Optic nerve atrophy
Orotic aciduria
Osler’s disease
Osler-Rendu-Weber syndrome
Osteoarthritis
Osteochondrodystrophia
Osteogenesis imperfecta
Osteopetrosis 
Ostium secundum defects
Otocephaly
Otopalatodigital syndrome   
Otosclerosis
Ovalocystosis
Ovarian cyst 
Ovary in groin
Oxalosis
Pallister Killian syndrome
Pancreatoblastoma
Paralysis agitans
Paraphimosis
Parietal encephalocele:
Parkinson's disease
Paroxysmal nocturnal hemoglobinuria
Partial androgen insensitivity syndrome
Patau's syndrome
Patent ductus arteriosus
Patent urachus
Pelger’s anomaly
Pelizaeus Merzbacher disease
Pelvic kidney
Pena Shokeir syndrome
Pentalogy of Cantrell, ultrasound
Pentalogy of Cantrell 
Pentosuria
Pericardial cyst
Periodic familial paralysis
Periodicarthralgia
Pernicious anaemia
Persistent cloaca
Persistent craniopharyngeal canal
Persistent foramen ovale
Persistent foramen ovale
Persistent left superior vena cava, ultrasound
Persistent left superior vena cava 
Persistent right superior vena cava, ultrasound
Persistent right umbilical vein, ultrasound
Persistent truncus arteriosus
Persistent urachus
Persistent urogenital sinus
Perthe’s disease
Peutz-Jagher’s syndrome
Pfeiffer syndrome
PHACES syndrome
Phalangeal synostosis
Phenylketonuria
Phenyl-thio-urea taster/non taster
Phimosis
Phocomelia 1
Phocomelia 2 
Piebalding
Pierre-Robin syndrome
Pierre-Robin syndrome
Pityriasis rubra pilaris
Placenta accreta
Placenta annularis
Placenta bipartita
Placenta circumvallata
Placenta duplex
Placenta fenestrata
Placenta hemangiomata
Placenta increta
Placenta membranacea
Placenta percreta
Placenta previa
Placenta succenturiata
Placenta valementosa
Placental chorioangioma
Placental infarcts
Placental lipoma
Poland syndrome
Polycystic kidney
Polydactyly
Polydactyly 
Polyhydramnios
Polysplenia
Polysplenia syndrome (levoisomerism, cardiosplenic synrdrome, heterotaxy)
Polysplenia syndrome 
Porencephalic cysts, multiple
Porencephaly
Porokeratosis
Porphyria
Post axial acrofacial dysostosis 
Postdatism
Posterior urethral valves
Potter sequence 
Potter's syndrome
Preauricular fistula
Preeclampsia-eclampsia
Premature baldness
Premature closure of ductus arteriosus, ultrasound
Premature closure of foramen ovale, ultrasound
Premature closure of the ductus arteriosus 
Premature closure of the foramen ovale 
Primary congenital lymphedema
Primary femoral deficiency syndromes
Progressive ophthalmoplegia
Proprionic acidaemia
Proteus syndrome
Proximal femoral deficiency syndromes 
Prune-belly syndrome
Pseudocoarctation
Pseudoxanthoma elasticum
Psoriasis
Pterygium syndrome
Ptosis
Pulmonary atresia
Pulmonary incompetence
Pulmonary regurgitation
Pulmonary stenosis, ultrasound
Pulmonary stenosis
Pyelectasis
Pyloric atresia
Radial club deformity
Radial loop on hypothenar area
Radial loop on thenar area
Radial ray aplasia 
Ranula 
Rectal atresia
Recto-urethral fistula
Rectovaginal fistula
Red hair
Red skin trait
Red-green color blindness
Refsum's syndrome
Renal agenesis
Renal duplication
Renal glycosuria
Renal hypoplasia
Renal tubular acidosis
Renal tumors 
Renal vein thrombosis
Retinitis pigmentosa with deafness
Retinitis pigmentosa without deafness
Retinoblastoma
Retinoic acid embryopathy
Retrosternal goiter
Rett syndrome
Rhabdomyoma (hamartoma) of heart
Rhabdomyosarcoma of heart
Rheumatoid arthritis
Right aortic arch syndrome
Roberts-SC phocomelia syndrome
Rudimentary phallus
Rudimentary phallus
Sacral agenesis
Sacrococcygeal teratoma
Sarple syrup disease
Scaphocephaly
Schizencephaly 
Sebaceous nevus
Seckel syndrome
Secretor factor
Septate uterus
Septate vagina
Septation of external acoustic meatus
Septo-optic dysplasia 
Short rib-polydactyly syndrome 
Siamese twins
Siamese twins
Sickle cell anemia
Simple epidermolysis
Sinus venosus defect
Sirenomelia 
Situs anomalies
Situs invertus
Situs invertus
Slow inactivation of isoniazid
Small atrioventricular septal defect
Smile
Smith-Lemli-Opitz syndrome
Spastic paraplegia
Spherocytic anaemia
Spina bifida
Spina bifida occulta
Spina bifida occulta
Spleen cyst 
Split hand and foot
Split notochord syndrome
Squint
Stomach, small fetal
Striatal necrosis, bilateral
Subamaniotic hematoma
Subaortic stenosis
Subseptate uterus
Sulphituria
Supernumerary teeth
Supratentorial arachnoid cyst
Symphalangism
Synaechia vulvae
Syndactyly
Syndactyly
Syndactyly 3
Syndactyly 4
Synotia
Syrenomelia
Tail
Talipes
Talipes
Talipes calcaneovalgus
Talipes calcaneovarus
Talipes calcaneus
Talipes cavus
Talipes equinovalgus
Talipes equinovarus
Talipes equinus
Talipes valgus
Talipes varus
Tay Sachs disease
Tessier type 7 cleft
Testicular agenesis
Testicular feminization syndrome
Testis in perineum
Tetanus
Tetra amelia
Tetralogy of Fallot, ultrasound
Tetralogy of Fallot
Thalassaemia
Thalidomide embryopathy
Thanatophoric dysplasia 
Thrombocytopenia-absent radius syndromes
Thymic parathyroid gland
Thyroglossal cyst
Thyroglossal fistula
Total anomalous pulmonary venous drainage
Total anomalous pulmonary venous drainage
Total colour blindness
Tourette syndrome
Towns-Brocks syndrome
Tracheal atresia with stenosis
Tracheoesophageal fistula   
Transient abdominal cyst
Transposition of great vessels
Transposition of great vessels  ultrasound
Treacher-Collins syndrome
Tricuspid atresia
Tricuspid incompetence
Tricuspid regurgitation
Tricuspid stenosis
Tricuspid stenosis
Triloculare
Triphalangeal thumb
Triple X syndrome
Trisomy 22 placenta
Truncus arteriosus (unequal division)
Tuberous sclerosis
Turner's syndrome
Turner's syndrome
Tylosis palmaris and plantaris
Tyrosinosis
Ultrasound 12 weeks
Ultrasound abdomen
Ultrasound baby
Ultrasound clubfoot
Ultrasound face 1
Ultrasound face 2
Ultrasound face 3
Ultrasound head
Umbilical artery (single)
Umbilical cord
Umbilical cord cyst
Umbilical cord -false knot
Umbilical cord- long
Umbilical cord -true knot
Umbilical cord varix
Umbilical cord  (long)
Umbilical cord-false knot
Umbilical hernia
Umbilical vein fenestration
Unicornuate uterus
Ureterocele 
Uretero-vesical junction obstruction
Urethral anomalies, echogenic
Urinary tumours
Urticaria pigmentosa
Uterine agenesis
Uterine didelphis
Uterine horn
Uterine hypoplasia
Uterus arcuatus
Uterus bicornis unicollis
Uterus bicornis unicollis
Uterus septus
Uterus subseptus
Vaginal atresia
Vaginal septum
Vallecular cyst
Vasa previa
Vascular ring
Vein of Galen aneurysm
Vein of Galen aneurysm 
Vena cava thrombosis
Ventricular septal defect
Ventriculomegaly
Vitamin D resistant rickets
Vitellointestinal cyst
Volvulus
Von Hippel syndrome
Von Willebrand’s disease
Waardenburg's syndrome
Walker-Warburg syndrome
White forelock (only in males)
William's syndrome
Wilson’s disease
Windswept deformity
Wolf-Hirschhorn syndrome
Woolly hair in a European
Wormian bones
Xanthinuria
Xanthomatosis
Xeroderma pigmentosum
XYY syndrome
Yawn
Zellweger syndrome
 
 
 
 

 

 

 

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