VIDEOS
NEUROFIBROMATOSIS TIPO 1
CONDICIONES
CONDICIONES GENÉTICAS
- Acidemia metimalónica: rarediseases.info.nih.gov/espanol/11859/acidemia-metilmalonica
- Acondroplasia: rarediseases.info.nih.gov/espanol/12001/acondroplasia
- Síndrome de Beckwith Wiedeman : rarediseases.info.nih.gov/diseases/12270/sindrome-de-beckwith-wiedemann
- Síndrome de Cornelia de Lange: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=80
- Síndrome de Maullido de Gato (Cri-du-chat): medlineplus.gov/spanish/ency/article/001593.htm
- Síndrome de Down: https://rarediseases.info.nih.gov/diseases/11883/sindrome-de-down
- Síndrome de Ehlers-Danlos: rarediseases.info.nih.gov/espanol/12323/sindrome-de-ehlers-danlos
- Síndrome de Galactosemia: rarediseases.info.nih.gov/espanol/12418/galactosemia
- Condición de Gaucher: medlineplus.gov/spanish/gaucherdisease.html
- Síndrome de Gorlin: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=172
- Deficiencia de Glucosa-6-fosfato Deshidrogenasa: carefirst.staywellsolutionsonline.com/Spanish/RelatedItems/85,P03214
- Desordenes de Glucogenosis:
- Síndrome de Klinefelter : medlineplus.gov/spanish/klinefelterssyndrome.html
- Neurofibromatosis Tipo 1 - NF1: rarediseases.info.nih.gov/diseases/12507/neurofibromatosis-tipo-1
- Neurofibromatosis Tipo 2 - NF2: rarediseases.info.nih.gov/diseases/12508/neurofibromatosis-tipo-2
- Síndrome de Marfan : rarediseases.info.nih.gov/diseases/13207/sindrome-de-marfan
- Síndrome de Morquio : medlineplus.gov/spanish/ency/article/001206.htm
- Síndrome de Pallister-Killian: www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=557&Disease_Disease_Search_diseaseGroup=Pallister-Killian-&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Tetrasomy-12p--Pallister-Killian-syndrome-&title=Tetrasomy-12p--Pallister-Killian-syndrome
- Fenilcetonuria (PKU): nacersano.marchofdimes.org/complicaciones/fenilcetonuria.aspx
- Síndrome de Prader-Willi: rarediseases.info.nih.gov/diseases/12004/sindrome-de-prader-willi
- Síndrome de Rett: www.mychildwithoutlimits.org/understand/rett-syndrome/rett-syndrom-treatment/?lang=es
- Russell - Silver : medlineplus.gov/spanish/ency/article/001209.htm
- Síndrome de Shprintzen-Goldberg: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=10001098
- Síndrome de Smith-Magenis: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=10000679
- Síndrome de Sotos: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=368
- Síndrome de Esclerosis Tuberosa: es.familydoctor.org/prevencion-y-bienestar/
- Síndrome de Williams : https://rarediseases.info.nih.gov/diseases/13102/sindrome-de-williams
DIFERENCIAS CROMOSÓMICAS:
- Síndrome de Wolf-Hirschhorn: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=10000131
- Epidermólisis Ampollosa: www.niams.nih.gov/portal_en_espanol/Informacion_de_salud/Epidermolisis_ampollosa/
- Síndrome del Cromosoma X Frágil: www.cdc.gov/ncbddd/spanish/fxs/associateddisorders.html
- Incontinencia Pigmentaria: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=10000324
- Síndrome de Delecion 18q:
- Síndrome de Deleción 22q11.2: www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=10001714
- Osteogenesis Imperfecta : www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=421
- Trisomía 18: www.trisomia18.com/trisomia_18_que_es.asp
- Trisomía 13: www.trisomia18.com/trisomia_13_que_es.asp
- Síndrome de Turner : carefirst.staywellsolutionsonline.com/spanish/Search/90,P05530
CRANIOSINOSTOSIS:
- SÍndrome de Apert : http://www.enfermedades-raras.org/index.php?option=com_content&view=article&id=3100&idpat=35
- Síndrome de Crouzon: www.cleftline.org/es/en-espanol/publicaciones/informacion-acerca-del-sindrome-crouzon-craniofacial-dysostosis/
- Síndrome de Pfeiffer : http://www.aamade.com/casos-clinicos/sindrome-de-pfeiffer.html
DISTROFIAS MUSCULARES
- Distrofia muscular de Becker y Duchenne: www.espanol.ninds.nih.gov/trastornos/distrofia_muscular.htm
- Distrofia Muscular Congenital
- Defectos de la estructura de la proteína
- Defectos de glycosilacion
- Defectos de proteína del retículo endoplasmatico
- Defectos de proteínas de la membrana nuclear
FUENTES DE INFORMACIÓN
INFORMACIÓN GENERAL & DE APOYO
- Evaluación Psicoeducacional / Info espanol (USA) : https://www.parentcenterhub.org/evaluacion/
- Feder (Entidad de utilidad pública): www.enfermedades-raras.org/index.php/enfermedades-raras/listado-patologia
- Medicine Plus: medlineplus.gov/spanish/healthtopics.html
- AAMADE: www.aamade.com/quienes-somos.html
- CDC: www.cdc.gov/Spanish/
- 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/
- HON Dossier: https://www.hon.ch/HONselect/RareDiseases/index_sp.html
OTRAS REDES E INSTITUCIONES DE UTILIDAD - COLOMBIA
- RepaTea (Red de Apoyo a papás con autismo): http://redapoyoautismo.blogspot.com.co/
- Liga Colombiana de Autismo: www.ligautismo.org/