113 top medical experts on Potocki-Shaffer syndrome across 9 countries and 5 U.S. states, including 14 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Potocki-Shaffer syndrome: A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
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  • Synonyms: Chromosome 11p11.2 Deletion Syndrome,  Defect11 Syndrome,  Deletion of chromosome 11p11.2,  Type II Multiple Exostoses,  P11PDS,  Proximal 11P deletion syndrome


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