Living with Scalp-ear-nipple syndrome
A genetic condition present from birth that mainly affects the scalp, ears, and nipples, and sometimes the nails, teeth, and kidneys.
Understanding Scalp-ear-nipple syndrome
Babies are born with patchy raised, hairless spots on the scalp (aplasia cutis congenita) that heal in childhood. Ears may be small, cup-shaped, or folded, but hearing is generally normal. Nipples may be underdeveloped or absent, and sometimes breast tissue is absent too. Nail, tooth, and kidney differences can occur. Features vary even within one family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patchy scalp spots present at birth
- Small or oddly shaped ears
- Small or absent nipples
- Absent breast tissue
- Tooth differences and delayed tooth eruption
- Kidney differences and repeated urinary infections
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, maternal-fetal medicine specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KCTD1 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
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); 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
It is caused by changes in the KCTD1 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: finlay marks syndrome; finlay-marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; scalp, ear, nipple syndrome; sen syndrome; sens
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 Scalp-ear-nipple syndrome.
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