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, and Ila!

1p36 deletion syndrome

• 1p36Deletion Support and Awareness: https://www.1p36dsa.org/

  • This resource provides information on 1p36 deletion syndrome, including a section of FAQs. They also have links to their social media pages, a link to a Facebook support group that one can join, and an annual conference (as well as recordings of their previous conferences).

• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome

  • User-friendly website for learning about the condition

1q21.1 Deletion syndrome

• Simon’s Searchlight: https://www.simonssearchlight.org/research/what-we-study/1q21-1-deletions/

  • This resource provides a "gene guide" on 1q21.1 deletion syndrome including symptoms, causes, and treatments. It also contains a link to a Facebook support group, stories from other families, and "quarterly reports" on the syndrome

• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/10813/x

  • User-friendly website with information on the condition

2q37 Deletion syndrome

Cri-du-chat syndrome

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

• Simon’s Searchlight: https://www.simonssearchlight.org/research/what-we-study/2q37-deletion/

  • This resource provides a "gene guide" on 2q37 deletion syndrome, information on the gene's role, symptoms of this disorder, and population statistics. It also contains links to two different Facebook support groups

• UNIQUE: https://www.rarechromo.org/media/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNW.pdf

  • Guidebook on 2q37 deletion syndrome for families

• 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.

• Muscular Dystrophy Association: https://www.mda.org/disease/duchenne-muscular-dystrophy

  • This resource lists signs and symptoms, the tests used to diagnose, the causes and inheritance patterns, medical management, care centers, and support groups for this disorder

• Dravet Syndrome Foundation: https://dravetfoundation.org/start-here/families-caregivers/

  • This resource has information about what Dravet Syndrome is, diagnosis and treatment guidelines, genetic causes, comorbidities, clinical trials, treating physicians, and patient stories

• 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

• Emanuel Syndrome Website: https://emanuelsyndrome.org/

  • This resource contains resources, support groups, information about Emanuel syndrome, a family guidebook, and blog

• MedlinePlus Genetics: https://medlineplus.gov/genetics/condition/emanuel-syndrome/#synonyms

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

• Muscular Dystrophy Association: https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy

  • This resource contains information about the signs and symptoms of Emery-Dreifuss syndrome, diagnostic tests, medical management, care centers, and support groups

• 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