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

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

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

• 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

• National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/510-methenyltetrahydrofolate-synthetase-deficiency/

  • This site has information on 5,10-methenyltetrahydrofolate synthetase deficiency including causes, how it is diagnosed, symptoms, etc.

• Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/21367/x

  • This site contains information on 7p22.1 microduplication syndrome including symptoms and their onset.

• Simons Searchlight: https://www.simonssearchlight.org/research/what-we-study/17q12-deletion/

  • The Simon's searchlight site gives information on 17q12 microdeletion syndrome including symptoms, diagnosis, etc. They also include a UNIQUE pdf with great information on the disorder.

• 17q12 Foundation: https://www.chromo17q12.org/

  • The 17q12 foundation site has information for both 17q12 deletion and duplication syndromes. They have support groups and highlighted research studies.

• Simons Searchlight: https://www.simonssearchlight.org/research/what-we-study/17q12-duplication/

  • The Simon's searchlight site gives information on 17q12 microduplication syndrome including symptoms, diagnosis, etc. They also include a UNIQUE pdf with great information on the disorder.

• 17q12 Foundation: https://www.chromo17q12.org/

  • The 17q12 foundation site has information for both 17q12 deletion and duplication syndromes. They have support groups and highlighted research studies.

• The Chromosome 18 Registry & Research Society: https://www.chromosome18.org/18p/18p-basics/

  • The chromosome 18 site has information on many disorders associated with chromosome 18 abnormalities, including 18p-. It answers questions about symptoms, prognosis, and research opportunities.

• UNIQUE: https://rarechromo.org/media/information/Chromosome%2018/18p%20deletions%20FTNW.pdf

• 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.

• ALLSYN (Allgrove Syndrome Association): https://www.allgrove-syndrome.org/en/allgrove/#Infographic

  • This site has a great infographic with information about Triple-A syndrome (also called Allgrove syndrome).

• Rare Awareness Rare Education (RARE): https://www.rareportal.org.au/rare-disease/aarskog-scott-syndrome/

  • This site gives information including diagnosis, cause, treatment, etc. for Aarskog-Scott syndrome

• Aarskog Syndrome Parents Support Group (via NORD): https://rarediseases.org/organizations/aarskog-syndrome-parents-support-group/

  • This site includes contact information for a parent support group

• Sequencing.com: https://sequencing.com/education-center/medical/abcd-syndrome?srsltid=AfmBOoovmEc_g5d7jrnUs2HZrMH5FOfxptlivZnYfiDZSZ7lqDwPoUU8

  • *Please note that this is a commercial website and its contents should be considered within that lens. *

  • This site breaks down what each letter in the syndrome stands for, how the symptoms of ABCD syndrome affects the individual, and what genetic testing is available for this disorder

• NBIA Disorders Association: https://www.nbiadisorders.org/about-nbia/aceruloplasminemia

  • This site gives an overview of the disorder, as well as research publications and articles.

• National Organization for Rare Disorders (NORD) https://rarediseases.org/rare-diseases/aceruloplasminemia/

  • This site has an overview of symptoms, diagnosis, and treatment.

• 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

• United Porphyrias Association: https://www.porphyria.org/aip

  • This site has information about AIP including symptoms, treatment, and diagnosis.

• Simons Searchlight: https://www.simonssearchlight.org/gene-guide/adsl/

  • This site has an overview of the syndrome as well as a list of support groups.

• ALD Alliance: https://aldnewbornscreening.org/

  • This site is a great resource for learning about the types of ALD, treatment options, and real-life stories.

• 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

• National Foundation for Ectodermal Dysplasias (NFED): https://nfed.org/learn/types/acro-dermato-ungual-lacrimal-tooth-syndrome/

  • This site has information on what symptoms to expect with ADULT syndrome and includes ways to participate in research.

• AGSAA: https://agsaa.org/

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