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