Symptom and family survey — Fraser syndrome

This page is the English version of the voluntary symptom and family survey for Fraser syndrome. German version

Citizen science · voluntary survey

Symptom and family survey — Fraser syndrome

Focus: We are looking for shared patterns across skin and follicle inflammation such as hidradenitis suppurativa, bowel conditions such as Crohn's disease, other autoimmune conditions, sleep-wake disorders, connective-tissue/developmental findings, genetic findings and family history in the context of Fraser syndrome.

That is why responses from different groups matter: with or without narcolepsy, with or without hidradenitis suppurativa, with or without Crohn's disease or other bowel/autoimmune conditions, with known or unclear genetic findings, with other comorbidities or with only individual observations. Not every question has to fit your situation. Partial answers are helpful and are captured separately, without implying causality.

This survey is not a clinical study and does not replace medical advice. Please do not enter names of affected persons or other family members.

Deutsche Version dieser Umfrage

Which situation applies to you?

I have narcolepsy Diagnosed, under evaluation, or with marked daytime sleepiness. Fraser syndrome in my family For example parent, carrier, relative, or affected person. Both apply Narcolepsy and a Fraser syndrome link in your family or yourself. Other / something else Another sleep disorder, hidradenitis suppurativa (HS), Crohn's disease, other chronic condition — or unknown family history (e. g. adopted).

Basic information

Age group

Sex / gender

Country

Additional notes on basic information

Narcolepsy and genetic tests

Narcolepsy status

Diagnosed Suspected / under evaluation Only excessive daytime sleepiness

Type

Type 1 Type 2 Unclear

Age at symptom onset

Age at diagnosis

Was HLA typing performed?

Yes No Do not know

HLA-DQB1*06:02 result, if known

Positive Negative Do not know

Was chromosome analysis / karyotyping performed?

Yes No Do not know

Karyotype result, if known

Normal Abnormal Do not know

Karyotype details

Reason for the chromosome analysis

Routine diagnostic Concrete suspicion Family screening / carrier evaluation Prenatal Incidental finding Don't know

Note: Even without a chromosome analysis you can indicate here whether you are aware of a translocation — for example from an older report or family history.

Important: Please also include genetic or chromosomal findings that do not seem related to hidradenitis suppurativa at first glance. This includes translocations, deletions/duplications, abnormal karyotypes, array-CGH or WGS findings, or known gene variants in you or your family. Sometimes apparently unrelated family findings provide the most important cross-references.

Known chromosome translocation?

Yes No Unclear / suspected Do not know

Involved chromosomes, if known

Details on the translocation or chromosome finding

Are you yourself a carrier of a chromosomal abnormality without having a disease?

E.g. known balanced translocation from family screening, without having narcolepsy or Fraser syndrome yourself.

Yes, translocation known Yes, other aberration No Don't know

Additional notes on narcolepsy / genetics

Fraser genetics and sleep symptoms

Relationship to Fraser syndrome

Parent of a child with Fraser syndrome Carrier Relative Affected myself

Which gene is affected, if known?

FRAS1 FREM2 GRIP1 Do not know Other

Excessive daytime sleepiness

Yes Sometimes No

Sudden loss of muscle tone / cataplexy

Yes Unsure No

Sleep paralysis

Yes No

Hallucinations when falling asleep or waking

Yes No

Findings during pregnancy or in the child

CHAOS / fetal airway obstruction Laryngeal atresia Renal agenesis Oligohydramnios Polyhydramnios Fetal hydrops / ascites Echogenic lungs Cryptophthalmos Syndactyly Genital anomalies Esophageal atresia Stillbirth / neonatal death Miscarriage(s) Severe breathing problems after birth Other findings

Other findings

Additional notes on Fraser syndrome link

Comorbidities and symptoms

Neurology / sleep

ADHD Depression Anxiety disorder Autism spectrum Migraine Excessive daytime sleepiness Other sleep disorder

Immune system / inflammation

Asthma / allergies Crohn disease / IBD Irritable bowel syndrome Hashimoto / Graves disease Rheumatic / autoimmune disease Vasculitis Celiac disease

Findings relevant to Fraser syndrome

Skin problems Dry eyes Strabismus / visual impairment Joints / hypermobility Lipedema Inguinal or umbilical hernia Kidney problems Endometriosis

Reproduction / other

Miscarriages Infertility Cancer Heart / high blood pressure Other

Which type of cancer?

Other conditions

Additional notes on comorbidities

Medication for narcolepsy or daytime sleepiness

Pitolisant (Wakix)