Living with Pili torti-onychodysplasia syndrome
A very rare condition present from birth that affects hair, nails and sometimes the skin, with brittle twisted hair and nail changes.
Understanding Pili torti-onychodysplasia syndrome
People are born with nail changes, especially at the tips, and have very thin hair or hair loss, including the eyebrows, eyelashes and body hair. Other hair is brittle and twisted. GARD lists skin changes, cleft lip or palate, and webbed fingers or toes. It has not been described in the literature since 1991.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brittle, twisted hair
- Missing eyebrows and eyelashes
- Hair loss over the whole body
- Poorly formed nails from birth
- Thickened palms and soles
- Cleft lip or cleft palate
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 genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pili torti onychodysplasia syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pili torti-onychodysplasia syndrome.
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