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Disorders > Other Rare Disorders

Rare Disorders
Alphabetically listed, Please scroll down to view.

The MAGIC Foundation is always expanding to meet the needs of many diversely affected people. In addition to the more prevalent syndromes detailed throughout this site, we also have families and/or affected people with the other medical conditions.

This list is constantly changing and has some links to other support organizations. If you need more information pertaining to the conditions on this page, feel free to contact us.
 
If you would like to network with families we have associated with these conditions, contact our office. If you are a medical professional and have patients with these diagnoses, feel free to mention our networking to them.
 
To include a personal website regarding one of the following disorders; email jamie@magicfoundation.org and put Personal Story in the subject line.
 
To contact our office: Toll free in the U.S. call 800-362-4423 or (708) 383-0808.
 
6p25 Chromosome Deletion/ Riegers Anomly (Syndrome)
Achondroplasia
Acrodysostosis
Addisons Disease
Adrenal Disorder
Alagille Syndrome
Albright Hereditary Osteodystrophy
Angelman Syndrome
Arnold-Chiari Malformation
Asperger Syndrome
Behcet's Disease
Bloom Syndrome
Bone dysplasia (resembles Spondyloepiphyseal Dyspl)
Camptomelic Dysplasia
Cardiofaciocutaneous Syndrome
Cartilage-hair Hypoplasia
Cat Eye Syndrome
Caudal Regression Syndrome
Charge Syndrome
Chondrodysplasia Punctata
Chromosomal disorder 18p-
Chromosome deletion 10 of 26
Chromosome 22 q 11.2 Deletion  (also called Velo-Cardio-Facial syndrome, Shprintzen Syn, & DiGeorge Sequence)
Cleidocranial Dysostosis
Cockayne Syndrome possible
Colitis
Conradi Hunermann
Cornelia deLange Syndrome
http://www.cdlsusa.org/   is the link for the home page of the CdLS Foundation (USA).
http://groups.yahoo.com/group/cdls-kids/   is the link for the home page of the CdLS online support group.
http://www.cdlsworld.com   is the link for the CdLS World Organization 
Costello Syndrome
Crohn's Disease
Cushings Syndrome
DeBarsy Syndrome
Delayed Puberty
Deletion Chromosome 2, possible GHD
Diastrophic Dysplasia
Down Syndrome
Dubowitz Syndrome & CPP
Dyggve Melchior Clausen
 
Edwards Syndrome
Empty Sella
Epstein-Barr Syndrome
 
Fairbank Disease -  Multiple Epiphyseal Dysplasia
Fanconi Anemia
Fetal Alcohol Syndrome
Fetal Anti-Convulsant Syndrome
Fetal Veapkote Syndrome / Fetal Balproate Acid Syndrome
Froelich's Syndrome
 
Gerneralized Resistance to Thyroid Hormone
Geroderma Osteocystlastica
Graves Disease
 
Hallerman-Streif Syndrome
Hashimoto
Hemihypertrophy
Hirschsprungs
Hydrocephlus - IUGR
Hypocalcemia/Calcium Sensing Receptor Gene Mutation
Hypochondraplasia
Hypophospatemic Rickets/AGHD
 
Idiopathic short stature
Inflamatory bowel disease/excessive production of GH
Intra Uterine Growth Retardation  link to brochure
 
Jarcho-Levine Syndrome
Jeune Syndrome
Johanson Blizzard Syndrome
Juenes/Barnes Syndrome possible
 
Kallmann Syndrome
Kabuki Syndrome www.sakks.org 
Ketotic Hypoglycemia
Kleinfelters Syndrome
Kniest Syndrome
 
Langer Giedion Syndrome Possible
Larsen's Syndrome
Leopard Syndrome
Leri Weill possible
Leukemia/Bone Marrow Transplant/Failure to Thrive FTT
LGH/Skeletal Dysplasia
 
Mayer Rokinstanski Syndrome link to brochure
Meier-Gorlin Syndrome - Ear, Patella, Short Stature-RSS possible
Metaphyseal Chondrodysplasia,type McKusick
Metaphyseal Dysplasia
Microcephaly, Congenital Hypothyroidism
Mixed Gonadal Dysgenesis
Moebius Syndrome
Morquio Syndrome A
Mulibrey Nanism IUGR FTT
Multiple Epiphyseal Dysplasia
 
Neurofibromatosis
 
Odontohypophosphatasia
Oligodendroglioma
Osteogenesis Imperfecta
Overactive Thyroid
 
PAIS-Androgen Insensitivity 46xy
Partial Trisomy 10Q
Partial Trisomy 9P
Pierre Robin Syndrome/RSS
Pit Tumor  GHD  Thyroid Def TD
Pituitary Stalk Interruption Syndrome-PAN
Prader Willi
Premature Adrenarche
Pseudohypoaldosteronism (PHA)
Pseudohypoparathyroidism
 
Reciprocol Translocation of Chromosomes 7 and 9, possible GHD
Seckel Syndrome
 
Short Stature
Short Syndrome
Skeletal Dysplasia
Sotos Syndrome
Spina Bifida
Spondyloepiphyseal Dysplasia
 
Tangiers Syndrome
Testicular Feminization
Trichorhinophalangeal Syndrome
Trisomy 14, Mosaic Pattern
Trisomy 18
Trisomy 21
trisomy 4 P +, GHD, genisis of the corpus colosom, ONH
 
Weaver Syndrome
Weill Marchesani Syndrome
 
XQ 2628 Duplication
XXX Syndrome, Triple X Syndrome
 
 
Want to learn more, talk/network with a parent with an affected child or read personal stories of affected families? These features and much more are available in our Members Only areas. See Foundation Information/ Family Services (drop down link at the top) for more details.

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This page was last updated on Mon May 19, 2008.

 

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