Living with Pili torti-developmental delay-neurological abnormalities syndrome
A very rare genetic condition with twisted hair, slow growth and development, and mild to moderate nervous system problems.
Understanding Pili torti-developmental delay-neurological abnormalities syndrome
It begins in infancy. Children have twisted hair (pili torti), slow growth and development, and mild to moderate nervous system problems. GARD says it has been described in a brother and sister whose parents were related.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Flattened and twisted hair (pili torti)
- Delays in development
- Slow growth
- Low muscle tone (hypotonia)
- Trouble with balance and walking (ataxia)
- Very loose joints
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.
- 3Consider genetic testing
Changes in HEPHL1 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
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
Changes in the HEPHL1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: abnormal hair, joint laxity, and developmental delay
Patient organizations
- National Foundation for Ectodermal DysplasiasPili torti-developmental delay-neurological abnormalities syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pili torti-developmental delay-neurological abnormalities syndrome.
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