Living with Menkes kinky-hair syndrome
An inherited condition that affects copper levels, with sparse kinky hair, slow growth, and nervous system changes.
Understanding Menkes kinky-hair syndrome
It causes sparse, kinky hair, slow weight gain and growth, and nervous system decline. Other signs include weak muscle tone, sagging facial features, seizures, delayed development, and intellectual disability. Signs usually begin in infancy. GARD says early treatment with copper may help some people. Occipital horn syndrome is a milder form that begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse, kinky hair
- Poor weight gain and growth
- Low muscle tone
- Seizures
- Developmental delay
- Loose joints and loose skin
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, seizure and epilepsy specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ATP7A 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy 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 ATP7A gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: congenital hypocupremia; copper transport disease; kinky hair disease; kinky hair syndrome; md; menke's kinky hair syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Menkes kinky-hair syndrome.
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