Endocrine

Endocrine

  • Assess for short stature and track linear growth at each visit. If linear growth falters and/or if stature <3%ile, recommend assessment by a pediatric endocrinologist to consider treatment options.
  • growth parameters should be obtained at each visit, including length (height if able to stand after age 3) and weight. Prior literature reports short stature is common in this group, however a plateauing or cessation of growth from the patient’s prior percentiles should prompt further evaluation (ie, for nutritional inadequacy and possible endocrinopathy). Would consider a formal swallowing evaluation if any signs or symptoms of dysphagia or changes in diet are present.

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.