217 top medical experts on Pitt-Hopkins syndrome across 24 countries and 9 U.S. states, including 45 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Pitt-Hopkins syndrome: A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Organizations Providing General Support

  • Synonyms: With Autonomic Dysfunction Severe Epileptic Encephalopathy,  With Intermittent Hyperventilation Syndromal Mental Retardation,  Pitt Hopkins syndrome


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