Genetics and Dysmorphology

  • Fragile X

  • Gonadal dysgenesis syndrome (Turner, XO)

  • Klinefelter syndrome (XXY)

  • Down syndrome

  • Edward syndrome

  • Patau syndrome

  • Prader-Willi syndrome

  • Williams syndrome

  • Aarskog syndrome

  • Alport syndrome

  • Achondroplasia

  • Holt-Oram syndrome

  • Marfan syndrome

  • Robinow syndrome

  • Treacher Collins syndrome

  • Laurence-Moon-Biedl syndrome

  • Polycystic disease

  • Beckwith syndrome

  • Exomphalos

  • Cornelia de Lange syndrome

  • Ellis-van Creveld syndrome

  • Poland anomaly

  • Polydactyly

  • Syndactyly

  • Thyroglossal cyst / fistula

 

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