195 top medical experts on Young Simpson syndrome across 23 countries and 13 U.S. states, including 22 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Young Simpson syndrome: A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Parent Matching Organizations

  • Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family and search using "Ohdo syndrome" to view a list of families who have registered with this Web site.
  • Synonyms: Say-Barber-Biesecker-Young-Simpson Type Blepharophimosis and Mental Retardation Syndrome,  Say-Barber-Biesecker-Young-Simpson Type Blepharophimosis-Intellectual Deficit Syndrome,  Mental retardation unusual facies hypothyroidism,  SBBYS Variant Ohdo Syndrome,  Say-Barber-Biesecker Variant Ohdo Syndrome,  Say-Barber-Biesecker-Young-Simpson Variant Ohdo Syndrome,  SBBYS Variant of Ohdo Syndrome,  Say-Barber-Biesecker-Young-Simpson Syndrome,  Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome,  Young-Simpson Syndrome


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