Living with BRESEK syndrome
A rare X-linked syndrome with brain, skin, bone, ear, eye, and kidney differences and severe intellectual disability.
Understanding BRESEK syndrome
It involves brain differences, severe intellectual disability, ectodermal dysplasia (differences in skin, hair, and nails), and bone differences such as spine changes, scoliosis, and extra fingers. Ears and eyes can be affected, with hearing loss and small optic nerves, and the kidneys may be underdeveloped. It is noted in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability and developmental delay
- Small head (microcephaly)
- Hearing loss and low-set ears
- Eye differences, such as small eyeballs and coloboma
- Cleft palate
- Hair loss and extra little finger
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MBTPS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MBTPS2 gene cause this condition. It is inherited in an X-linked way.
Also known as: brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome; brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome; bresek (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome; bresheck syndrome; x-linked mental retardation reish type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with BRESEK syndrome.
Explore research for BRESEK syndrome
Explore actively recruiting BRESEK syndrome studies with HealthSpark.
Find actively recruiting studies for BRESEK syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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