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VIDEOS

NEUROFIBROMATOSIS TYPE 1 

CONDITIONS 
GENETIC CONDITIONS
  • Achondroplasia: ghr.nlm.nih.gov/condition/achondroplasia​
  • ​Alagille:ghr.nlm.nih.gov/condition/alagille-syndrome
  • Beckwith Wiedeman Syndrome: https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome                                                                                                           www.youtube.com/watch?v=lyJCLxfRjD0​
  • CHARGE Syndrome: ghr.nlm.nih.gov/condition/charge-syndrome
  • Cornelia de Lange Syndrome: ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome
  • Cri-du-chat Syndrome: ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
  • Down Syndrome: ghr.nlm.nih.gov/condition/down-syndrome
  • Ehlers-Danlos Syndrome: ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
  • Fragile X Syndrome: ghr.nlm.nih.gov/condition/fragile-x-syndrome
  • ​Galactosemia:ghr.nlm.nih.gov/condition/galactosemia
  • Gaucher Condition: ghr.nlm.nih.gov/condition/gaucher-disease
  • Gorlin Syndrome: ghr.nlm.nih.gov/condition/gorlin-syndrome
  • Glucose-6-phosphate dehydrogenase deficiency: ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency
  • Glycogen Storage Disorder:
    • Glycogen Storage Disorder Type 0: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-0
    • Glycogen Storage Disorder Type I: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
    • Glycogen Storage Disorder Type II: ghr.nlm.nih.gov/condition/pompe-disease
    • Glycogen Storage Disorder Type III: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii
    • Glycogen Storage Disorder Type IV: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv
    • Glycogen Storage Disorder Type V: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v
    • Glycogen Storage Disorder Type VI: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi
    • Glycogen Storage Disorder Type IX: ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-
  • Kabuki Syndrome: ghr.nlm.nih.gov/condition/kabuki-syndrome
  • Klinefelter Syndrome: https://ghr.nlm.nih.gov/condition/klinefelter-syndrome
  • Neurofibromatosis Type 1 - NF1: ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
  • Neurofibromatosis Type 2 - NF2: https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2
  • Marfan Syndrome: https://ghr.nlm.nih.gov/search?query=marfan​
  • Mitochondrial Disorders: www.ncbi.nlm.nih.gov/books/NBK1224/
  • Morquio Syndrome: ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv
  • ​Oral-facial-digital Syndrome: ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome
  • Pallister - Killian Mosaic: ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome
  • Phenylketonuria (PKU): ghr.nlm.nih.gov/condition/phenylketonuria
  • Prader-Willi Syndrome: ghr.nlm.nih.gov/condition/prader-willi-syndrome
  • Rett Syndrome: ghr.nlm.nih.gov/condition/rett-syndrome
  • Russell - Silver : ghr.nlm.nih.gov/condition/russell-silver-syndrome
  • Shprintzen-Goldberg Syndrome: ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome
  • Smith-Magenis Syndrome: ghr.nlm.nih.gov/condition/smith-magenis-syndrome
  • Sotos Syndrome: https://ghr.nlm.nih.gov/condition/sotos-syndrome
  • ​Tuberous Sclerosis: ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex
  • Von Hippel-Lindau Syndrome: ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
  • Williams Syndrome: ghr.nlm.nih.gov/condition/williams-syndrome

​CHROMOSOME DIFFERENCES:
  • ​Deletion 4p Syndrome (Wolf-Hirschhorn Syndrome):  ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome
  • Epidermolysis Bullosa Simplex: ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex
  • Incontinenetia Pigmenti: ghr.nlm.nih.gov/condition/incontinentia-pigmenti
  • ​18q Deletion Syndrome:ghr.nlm.nih.gov/condition/18q-deletion-syndrome
  • 22q11.2 Deletion Syndrome: ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
  • Osteogenesis Imperfecta : ghr.nlm.nih.gov/condition/osteogenesis-imperfect
  • Triple X syndrome: medlineplus.gov/genetics/condition/triple-x-syndrome/
  • Trisomy 8 partial: ghr.nlm.nih.gov/chromosome/8
  • Trisomy 13: ghr.nlm.nih.gov/condition/trisomy-13
  • Trisomy 18: ghr.nlm.nih.gov/condition/trisomy-18
  • Turner Syndrome: ghr.nlm.nih.gov/condition/turner-syndrome

​CRANIOSYNOSTOSIS:
  • ​Apert Syndrome: ghr.nlm.nih.gov/condition/apert-syndrome
  • Crouzon Syndrome: ghr.nlm.nih.gov/condition/crouzon-syndrome​
  • Pfeiffer Syndrome: ghr.nlm.nih.gov/condition/pfeiffer-syndrome

MUSCULAR DYSTROPHIES:
  • Becker & Duchenne Muscular Dystrophy :ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy 
  • Congenital Muscular Dystrophy : www.ncbi.nlm.nih.gov/books/NBK1291/
    1. Defects of Structural protein 
    2. Defects of Glycosylation
    3. Defects of Proteins of the Endoplasmic Reticulum
    4. Defects of Nuclear Envelope Proteins


RESOURCES
GENERAL INFORMATION
  • Children's Medical Services: www.floridahealth.gov/alternatesites/cms-kids/families/early_steps/early_steps.html
  • Understood (For learning & attention issues): www.ncld.org/students-disabilities/iep-504-plan/what-is-iep
  • McKay Scholarship: http://www.fldoe.org/schools/school-choice/k-12-scholarship-programs/mckay/
  • Supplemental Educational Services (SES): http://nclbchoice.dadeschools.net/tutoring.asp
  • Miami-Dade County Public Schools: www.dadeschools.net
  • Miami-Dade County Public Schools for Special Education: http://ese.dadeschools.net/
  • Florida Kidcare: www.doh.state.fl.us/alternatesites/kidcare/
  • Florida Prepaid: www.myfloridaprepaid.com/
  • Miami Children’s Hospital: www.mch.com
  • Individuals with Disabilities Education Act (IDEA): www2.ed.gov/legislation/FedRegister/finrule/1999-2/062499a.pd
  • Achieving a Better Life Experience Act - ABLE United: www.ableunited.com/

SCHOOLS
  • Paradise Christian School: www.paradisechristianschool.com
  • Ace Academy School: www.aceacademyschool.com 

HELP FOR ELEGIBLE PEOPLE WITH DISABILITIES BECOME EMPLOYED
  • Florida division of vocational rehabilitation: www.rehabworks.org

LEGAL ADVICE: (Advocacy and Guardianship / Trust Services)
  • The Arc of South Florida: ​​www.arcsofla.org/programs

OTHER RESOURCES
  • Canine companions:  www.cci.org/site/c.cdKGIRNqEmG/b.3978475/k.BED8/Home.htm
  • American Academy of Child & Adult Psychiatry (ADHD): https://www.aacap.org/aacap/families_and_youth/resource_centers/adhd_resource_center/Home.aspx
  • The national resource on ADHD:  http://www.chadd.org
  • Family network and disabilities: http://fndusa.org/resources/florida-resources/
  • The official portal of the State of Florida: http://www.myflorida.com
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• 1-800-HELP-FLA (435-7352) - www.FloridaConsumerHelp.com 
  • Home
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