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Most Common
Congenital Diagnoses

• Achondroplasia
• Albright-McCune syndrome
• Alport's syndrome
• Androgen insensitivity
• Anencephalus
• Ankyloglossia
• Arnold-Chiari
• Atrial septal defect
• Beckwith-Wiedemann
• Biliary atresia
• Birthmark
• Bowing of leg
• Branchial cleft cyst, sinus, fistula
• Cataract
• Cervical rib
• Choanal atresia
• Cleft lip
• Cleft palate
• Club foot
• Coarctation of aorta
• Coloboma
• Conjoined twins
• Craniosynostosis
• Cri-du-chat syndrome
• Cryptorchism
• Dandy-Walker
• Darwin's tubercle
• Dextrocardia
• Diaphragmatic hernia
• Dislocation of hip
• Down's syndrome
• Eagle-Barrett syndrome
• Ebstein's anomaly
• Ehlers-Danlos syndrome
• Encephalocele
• Esophageal atresia
• Flat foot
• Fragile X syndrome
• Gastroschisis
• Gaucher's disease
• Hereditary hemorrhagic telangiectasia
• Hiatus hernia
• Hirschsprung's disease
• Horseshoe kidney
• Hydrocephalus
• Hypospadias
• Ichthyosis
• Imperforate anus
• Imperforate hymen
• Indeterminate sex
• Kartagener's syndrome
• Klinefelter's syndrome
• Klippel-Feil syndrome
• Laryngeal web
• Laurence-Moon-Biedl syndrome
• Macroglossia
• Marble bone disease
• Marcus Gunn syndrome
• Marfan syndrome
• McCune-Albright syndrome
• Meckel's diverticulum
• Medullary sponge kidney
• Microcephalus
• Microtia
• Noonan's syndrome
• Omphalocele
• Osler-Weber-Rendu disease
• Osteogenesis imperfecta
• Patent ductus arteriosus
• Pectus excavatum
• Pectus carinatum
• Peutz-Jeghers
• Pierre-Robin syndrome
• Polycystic kidney
• Polydactyly
• Port-wine stain
• Prader-Willi syndrome
• Preauricular sinus or fistula
• Prune belly syndrome
• Pseudohermaphroditism
• Pyloric stenosis
• Reduction deformities
• Renal agenesis
• Riley-Day syndrome
• Sacral dimple
• Schatzki's ring
• Situs inversus
• Spina bifida
• Stiff-baby syndrome
• Strawberry nevus
• Sturge-Weber
• Syndactyly
• Talipes equinus
• TAR syndrome
• Testicular feminization
• Tetralogy of Fallot
• Thrombocytopenia, congenital
• Tongue tie
• Total anomalous pulmonary venous return
• Tracheoesophageal fistula
• Transposition of great vessels
• Trisomy 21
• Truncus arteriosus
• Tuberous sclerosis
• Turner's syndrome
• Undescended testes
• Urachus, patent
• VATER syndrome
• Ventricular septal defect
• von Hippel-Lindau
• Waardenburg's syndrome
• Webbing of neck