Living with Scalp defects-postaxial polydactyly syndrome
A rare condition present from birth with gaps in the scalp and extra fingers or toes on the little-finger side.
Understanding Scalp defects-postaxial polydactyly syndrome
It causes areas of missing scalp at birth and extra digits on the little-finger side (postaxial polydactyly type A). Effects vary widely, and some people have only one of the two. GARD says there have been no further descriptions in the literature since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Areas of missing scalp or skull
- Extra finger or toe on the little-finger side
- Sparse scalp hair
- Brain tissue pushing through the skull (encephalocele)
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 bone and joint specialists, 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.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It does not name a gene.
Also known as: congenital scalp defects associated with postaxial polydactyly; scalp defects and postaxial polydactyly
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Scalp defects-postaxial polydactyly syndrome.
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