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 Geleophysic Dysplasia
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| Author | Topic: Geleophysic Dysplasia |
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Administrator Administrator |
posted 05-17-2001 02:22 PM
  
OMIM *231050: GELEOPHYSIC DYSPLASIA I have a 5 year-old patient with the diagnosis of geleophysic dysplasia. I am seeking information regarding current research or treatment options. Parents of the child are also seeking information about other families with geleophysic dysplasia to communicate by internet or telephone for social support. Thank you.
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shilo1218 Member |
posted 12-22-2001 10:18 AM
My daughter ashly was diagnosed with geleophysic dysplasia a few days ago. officially. There is no treatment available because the gene involved has not been identified. As I was told a few days ago...from Dr. Wilcox .who has done studies on this disorder...he feels that the life expectancy of childhood fatality is not typical....and not likely. that the case described was a child who had the severest form of it the main health concerns are anesthesia complications because of narrowing of trach and airways....heart failure if a child had severe cardiac involvement...and of course respitory complications of pneumonia but only if tracheal narrowing was severe that it would cause an obstruction of airway. from what I understand their growth will not be enhanced with growth harmone tx. we took her off because the accumulations of collagen thickened inside her tendons causing more stiffness of her hand that had just underwent surgery in hopes of being able to bend her fingers and make a fist. At this moment I e-mail 2 other parents with children with geleophysic dysplasia, know of another family. and I have just created and started an email message board support group to find all those diagnosed with geleophysic dysplasia both you and their family may join... I've also asked Dr. Wilcox from Cedars Sinai in LA to join..(he diagnosed Ashly) have the parents email me too. sincerely
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