Living with Pili torti-deafness syndrome
A rare condition that causes brittle, twisted scalp hair and hearing loss from early childhood.
Understanding Pili torti-deafness syndrome
The hair is twisted under the microscope (pili torti), brittle and breaks easily, so it is short and grows slowly. It usually affects only scalp hair and often begins before age 2. It may get milder with age, especially after puberty. Hearing loss from the inner ear shows up in early childhood and can range from mild to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brittle, twisted hair (pili torti)
- Hearing loss from the inner ear
- Hair loss (alopecia)
- Fine hair
- Missing or thin eyebrows
- Sparse body hair
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in BCS1L are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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 BCS1L gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance. Autosomal recessive means a child inherits a changed copy of the gene from each parent.
Also known as: bjornstad syndrome; bjornstad's syndrome; bjs; björnstad syndrome; deafness-pili torti-hypogonadism syndrome; deafness, pili torti, hypogonadism syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pili torti-deafness syndrome.
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