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User:P J McGill/Plum Syndrome Sandbox

From Wikipedia, the free encyclopedia

Plum Syndrome

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Introduction

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Plum syndrome is a very rare genetic disorder. It is characterized by retinal non-attachment, colobomata, odd facies, eyes set wide, flat face, dislocated hip, abnormal big toe, contractures of the extremities, cleft lip and mono-segmented leucocytes. There may be associated learning difficulties.[1][2]

Named by Dr. C.M. Plum.

Discovery and History

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Presentation

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While Plum Syndrome is a genetic disorder, Many of the signs of the disorder can be seen in individuals suffering from this disorder. While non-visual symptoms occur, The main diagnosis be observed.

Observable Abnormalities

  • Wide distance between eyes
  • Small eyes
  • Clubfoot
  • Flat face
  • Dislocated hip
  • Abnormal big toe
  • Abnormal kneecap
  • Absent kneecap
  • Long upper lip groove

Non-observable Abnormalities

  • Vision loss
  • Mental retardation
  • ADHD/ ADD

Diagnosis

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While many of the disorders seen in Plum Syndrome should be a cause of seeking medical advice, a combination of the disorders will lead to a diagnosis of the disorder. This diagnosis occurs at birth.

Treatment and Prognosis

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Each form of Plum Syndrome is different, meaning each individual suffers from different levels of abnormalities. For each symptom, a specialist for the disorder will be able to treat the problem or provide a therapy for the disorder.

Forums and helpful resources

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Many medical forums exist for support and medical information. While many websites do not provide information on the topic, rightdiagnosis.net provides helpful information of the disease.

References

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  1. ^ Metabolic and Pediatric Ophthalmology, 1979, vol./is. 3/2-4(149-155), 0191-2771 (1979)
  2. ^ http://www.checkorphan.org/disease/plum-syndrome accessed 5 July 2011