Living with White forelock with malformations
A very rare inherited condition with a white patch of forelock hair, distinct facial features, and eye, heart, and bone differences.
Understanding White forelock with malformations
GARD lists distinct facial features, bluish-gray whites of the eyes, a hole in the heart wall (atrial septal defect), and finger and toe differences. Signs appear in the newborn period or infancy. There have been no further descriptions in medical writing since 1980.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- White patch of hair above the forehead
- Bluish-gray whites of the eyes
- Hole in the heart wall (atrial septal defect)
- Wide-set eyes and eye folds
- Joined fingers and toes
- Very flexible 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 eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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
GARD says a child inherits a changed copy of a gene from each parent (autosomal recessive). It doesn't name the gene.
Also known as: white forelock with malformations syndrome
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 White forelock with malformations.
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