Resource Directory
(Project under construction!)

Find Support Groups, Patient Advocacy Organizations, and more through this directory with help from our 2026 WIGCA volunteers: Alexandrea, Maddie, Jingyun, and Ila!

 

1p36 deletion syndrome

 

1q21.1 deletion syndrome

 
 
 

2q37 deletion syndrome

 
 

5,10-methenyltetrahydrofolate synthetase deficiency

 
 

7p22.1 microduplication syndrome

 
 

17q12 microdeletion syndrome

 
 
 

17q12 microduplication syndrome

 
 
 
 

18p deletion syndrome

 
 

21-hydroxylase deficiency (Congenital Adrenal Hyperplasia)

 

Alpha 1-antitrypsin deficiency

 
 

AAA syndrome (Allgrove syndrome)

 

Aarskog-Scott syndrome

 
 
 
 

ABCD syndrome

 
 
 
 
 

Aceruloplasminemia

 
 
 
 

Achondroplasia

 
 
 

Acute intermittent porphyria

 
 

Adenylosuccinate lyase deficiency (ADSL)

 

Adrenoleukodystrophy

 

Alagille syndrome

 

Acro–Dermato–Ungual–Lacrimal–Tooth (ADULT) syndrome

 

Aicardi–Goutières syndrome

 
 

Albinism

 
 
 

Alexander disease

 
 
 
 

Alfi’s syndrome (Monosomy 9p)

 
 
 

Alkaptonuria

 
 
 
 

Alport syndrome

 
 
 

Alternating Hemiplegia of Childhood

 
 

Amish Lethal Microcephaly

 
 

Amyotrophic Lateral Sclerosis (ALS)

 
 
 

Alström syndrome

 
 
 
 

Alzheimer’s disease

 
 
 

Amelogenesis imperfecta

 
 
 
 

ALAD-Deficiency Porphyria

 
 
 

Androgen Insensitivity syndrome

 
 
 

Angelman syndrome

 
 
 

Apert syndrome

 
 
 
 

Arthrogryposis Renal Dysfunction Cholestasis syndrome

 
 
 

Arboleda-Tham syndrome/ KAT6A syndrome

 
 

Ataxia telangiectasia

 
 
 
 

Axenfeld-Rieger syndrome (ARS)

 
 

Cri-du-Chat syndrome (5p-)

 
 
 

Congenital Central Hypoventilation syndrome

 

Distal Muscular Dystrophy

 

Duchenne Muscular Dystrophy

 
 

Dravet syndrome

 
 

Ectodermal Dysplasia

 
 

Edwards syndrome (Trisomy 18)

 

Ehlers-Danlos syndrome

 
 

Emanuel syndrome

 
 

Emery-Dreifuss syndrome

 

Epidermolysis bullosa

 

Erythropoietic Protoporphyria

 

Fanconi anemia

 

Fabry disease

 

Factor V Leiden thrombophilia

 

Familial adenomatous polyposis

 

Familial dysautonomia

  • What the C@H?!: https://www.whatthecah.com/

    • This site has information on the disorder as well as a section of "life hacks and tips".

  • Alpha-1 Foundation: https://alpha1.org/

    • This site has information on Alpha 1-antitrypsin deficiency and has a section to find a support group. There is also a section on how to make healthy lifestyle choices while living with this disorder.

  • My Achon Journey: https://myachonjourney.com/

    • This site has great information on achondroplasia including a breakdown of what to expect at each age, as well as a section of resources and tools.

  • Little People of America: https://www.lpaonline.org/

    • This site provides support and information to people of short stature and their families

  • Alagille Syndrome Alliance: https://alagille.org/

    • This site includes resources and information about Alagille syndrome as well as ways to facilitate connections within the community

  • AGSAA: https://agsaa.org/

    • This site has information about symptoms, treatment, etc. as well as many great resources for families.

  • Under the Same Sun: https://www.underthesamesun.com/

    • This site has great information on empowering individuals with albinism.

  • National Organization for Albinism and Hypopigmentation: https://albinism.org/

    • This site has information about diagnosis and treatment for individuals with albinism as well as other connections and resources for families

  • End Alexander Disease: https://www.endaxd.org/

    • This site has information on the disease as well as research opportunities and community resources

  • Medline Plus Genetics: https://medlineplus.gov/genetics/condition/alexander-disease/

    • This site has a family-friendly informational resource on Alexander disease

  • ALS Association: https://www.als.org/

    • This site has great information on what to expect after being diagnosed, research opportunities, and support groups.

  • Alstrom Syndrome International: https://www.alstrom.org/

    • This site gives an overview of the disorder and has a great place to go for those who are newly diagnosed.

  • Medline Plus Genetics: https://medlineplus.gov/genetics/condition/alstrom-syndrome/

    • Family-friendly informational resource about this disorder

  • National Ataxia Foundation: https://www.ataxia.org/at/

    • This site gives a great overview of this syndrome and even has webinars to view.

  • AT Children’s Project: https://atcp.org/

    • This site provides information, resources, and connections to research for this disorder

  • 5P- Society: https://fivepminus.org/

    • This resource provides information on patient resources, support groups, information, and research about Cri-Du-Chat syndrome

  • Cri du Chat Research Foundation: https://www.criduchatresearch.org/

    • This resource provides information about resources, research studies, a video for newly diagnosed families, and information about advocacy events

  • CCHS Network: https://cchsnetwork.org/

    • This resource provides information about CCHS, treating providers, patient stories, research, and genetic testing options

  • Muscular Dystrophy Association: https://www.mda.org/disease/distal-myopathies

    • This resource provides information about the different types of Distal Myopathies, signs and symptoms, the tests used to diagnose, the causes and inheritance pattern, medical management, care centers and support groups.

 

  • National Foundation for Ectodermal Dysplasias: https://nfed.org/get-involved/connect-our-community/

    • This resource has information about the all the types of Ectodermal dysplasias, diagnosis, the genetics and inheritance, research, doctors, treatment options, treatment assistance programs, how to support those with the disorder, and how to get involved with the foundation.

 

  • MedlinePlus Genetics: https://medlineplus.gov/genetics/condition/trisomy-18/

    • This resource provides family-friendly information about Emanuel syndrome, the frequency, causes, inheritance pattern, and links to additional resources

  • The Edwards’ Syndrome Association: https://edwardssyndrome.org/

    • This resource provides family connection, peer support, outreach programs, evidence-base educational resources, advocacy, as well as remembrance and celebration programs

 

  • The Ehlers-Danlos Society: https://www.ehlers-danlos.com/

    • This resource provides information about types of EDS, diagnostic guidelines, hypermobility, treating doctors, support groups, research opportunities, and patient stories

 
 

  • debra: https://www.debra.org

    • This resource gives information about wound care supplies, information about the disorder, advocacy events, patient stories, research opportunities, treating providers, and additional resources