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

Current focus: narcolepsy and hidradenitis suppurativa (HS, also known as acne inversa).

This survey captures sleep symptoms, skin conditions, comorbidities, genetic tests and family history — separately, without implying causality. The goal is a first structured overview of possible shared patterns in a rare disease with few data points.

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.

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

Known chromosome translocation?

Yes No Unclear / suspected Do not know

Involved chromosomes, if known

Details on the translocation or chromosome finding

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)