Overview
SCALP syndrome is an extremely rare genetic condition present from birth. The name SCALP is an acronym that stands for Sebaceous nevus, Central nervous system malformations, Aplasia cutis congenita (areas of missing skin), Limbal dermoid (a benign growth on the surface of the eye), and Pigmented nevus (a type of birthmark). This syndrome affects multiple body systems, primarily the skin, eyes, and brain. Babies born with SCALP syndrome typically have noticeable skin findings at birth, including patches of missing skin on the scalp (aplasia cutis congenita), yellowish-orange waxy patches called sebaceous nevi, and large or multiple pigmented birthmarks. Eye abnormalities, particularly limbal dermoids (small growths on the clear part of the eye), are also characteristic. Brain and central nervous system malformations can vary in severity and may affect development and learning. Because SCALP syndrome is so rare, there is no single standard treatment. Management focuses on addressing each symptom individually. Skin lesions may be monitored or surgically removed, eye growths can be treated by an ophthalmologist, and brain abnormalities are managed by neurologists. Early intervention services and developmental support are important for children who have central nervous system involvement. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Patches of missing skin on the scalp at birthYellowish-orange waxy skin patches (sebaceous nevi)Large or multiple dark birthmarks (pigmented nevi)Small growths on the surface of the eye (limbal dermoids)Brain or central nervous system malformationsDevelopmental delaysSeizures in some casesVision problemsLearning difficultiesScarring on the scalp
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for SCALP syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for SCALP syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to SCALP syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe are the brain abnormalities, and what does this mean for my child's development?,Do the skin lesions need to be removed, and if so, when is the best time?,Will the eye growth affect my child's vision, and does it need surgery?,What therapies or early intervention services should we start?,How often should we schedule follow-up appointments with each specialist?,Are there any signs I should watch for that would need emergency care?,Should we pursue genetic testing, and would it help guide treatment or family planning?
Common questions about SCALP syndrome
What is SCALP syndrome?
SCALP syndrome is an extremely rare genetic condition present from birth. The name SCALP is an acronym that stands for Sebaceous nevus, Central nervous system malformations, Aplasia cutis congenita (areas of missing skin), Limbal dermoid (a benign growth on the surface of the eye), and Pigmented nevus (a type of birthmark). This syndrome affects multiple body systems, primarily the skin, eyes, and brain. Babies born with SCALP syndrome typically have noticeable skin findings at birth, including patches of missing skin on the scalp (aplasia cutis congenita), yellowish-orange waxy patches calle
How is SCALP syndrome inherited?
SCALP syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SCALP syndrome typically begin?
Typical onset of SCALP syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat SCALP syndrome?
3 specialists and care centers treating SCALP syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.