Conditions We Treat

Resource Guide for families
  • Ataxia-Telangiectasia
  • Beckwith-Wiedemann Syndrome / Isolated Hemihypertrophy
  • Congenital Central Hypoventilation Syndrome
  • Constitutional mismatch repair deficiency (CMMRD)
  • Costello Syndrome
  • Denys-Drash Syndrome
  • DICER1 Syndrome
  • Familial Adenomatous Polyposis
  • Hereditary Leiomyomatosis and Renal Cell Cancer
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
  • Li-Fraumeni Syndrome
  • Multiple Endocrine Neoplasia, Types 1, 2, and 4
  • Multiple Enchondromatosis including Ollier Disease and Maffucci Syndrome
  • Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
  • Peutz-Jeghers Syndrome
  • PTEN Hamartoma Tumor Syndromes including Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome
  • Rhabdoid Predisposition Syndrome
  • Simpson-Golabi-Behmel
  • Tuberous Sclerosis Complex
  • Von Hippel-Lindau Disease
  • WAGR
  • Paraneoplastic syndromes with concern for occult malignancy
  • Other rare syndromes/conditions in which cancer risk is greatly elevated and screening may improve outcomes