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  • Diseases
  • The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. (wikipedia.org)
  • Marfan Syndrome
  • Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress . (healthtap.com)
  • Patellofemoral syndrome is common in normal, active school-aged children , so it is hard to tell whether or not it occurs more often in marfan syndrome kids. (healthtap.com)
  • symptoms
  • Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. (nih.gov)
  • Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones. (wikipedia.org)
  • Causes
  • Some causes of nephrotic syndrome are due to herediary causes, eg one of the causes of fsgs also called focal and segmentalglomerulosclerosis. (healthtap.com)
  • Examples of congenital causes of hypogonadism, that is, causes that are present at birth: Turner syndrome in females, and Klinefelter syndrome in males. (wikipedia.org)
  • Lack
  • An example of a hypogonadism resulting from the lack of hormone response is androgen insensitivity syndrome, where there are inadequate receptors to bind the testosterone, resulting in a female appearance despite XY chromosomes. (wikipedia.org)
  • facial
  • Those suffering from this syndrome often exhibit specific facial features such as a broad forehead, arched eyebrows, ptosis (droopy eyelids), hypertelorism (widely spaced eyes), low-set ears and a triangle shaped mouth. (wikipedia.org)
  • people
  • Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). (nih.gov)