Overview
Pectus excavatum-macrocephaly-dysplastic nails syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are pectus excavatum (a sunken or caved-in chest), macrocephaly (an unusually large head), and dysplastic nails (abnormally shaped or formed fingernails and toenails). This syndrome was first described in a small number of patients, and very little is known about it in the medical literature. People with this condition are typically born with or develop a noticeable indentation of the breastbone and chest wall, which can range from mild to severe. The large head size is usually present from birth or early infancy. The nail abnormalities may include nails that are thin, ridged, brittle, or unusually shaped. Some affected individuals may also have other skeletal or developmental differences. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually. For example, severe pectus excavatum may be treated with surgery if it causes breathing or heart problems. Nail care and monitoring of head growth are also part of ongoing management. Genetic counseling is recommended for affected families to understand the risk of passing the condition to future children.
Also known as:
Key symptoms:
Sunken or caved-in chest (pectus excavatum)Unusually large head (macrocephaly)Abnormally shaped or brittle fingernails and toenailsPossible skeletal abnormalitiesPossible growth differencesChest wall deformity visible from the outsideNails that may be thin, ridged, or poorly formed
Clinical phenotype terms (15)— hover any for plain English
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pectus excavatum-macrocephaly-dysplastic nails syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Pectus excavatum-macrocephaly-dysplastic nails syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Pectus excavatum-macrocephaly-dysplastic nails syndrome.
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 Pectus excavatum-macrocephaly-dysplastic nails syndrome.
Community
No community posts yet. Be the first to share your experience with Pectus excavatum-macrocephaly-dysplastic nails syndrome.
Start the conversation →Latest news about Pectus excavatum-macrocephaly-dysplastic nails syndrome
No recent news articles for Pectus excavatum-macrocephaly-dysplastic nails syndrome.
Follow this condition to be notified when news becomes available.
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 is my child's pectus excavatum, and does it need surgical correction?,Is the large head size causing any pressure on the brain, and how will you monitor this?,Should we pursue genetic testing to look for an underlying cause?,What specialists should be part of our care team?,Are there any activity restrictions my child should follow?,What signs or symptoms should prompt an emergency visit?,Is there a risk of passing this condition to future children?
Common questions about Pectus excavatum-macrocephaly-dysplastic nails syndrome
What is Pectus excavatum-macrocephaly-dysplastic nails syndrome?
Pectus excavatum-macrocephaly-dysplastic nails syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are pectus excavatum (a sunken or caved-in chest), macrocephaly (an unusually large head), and dysplastic nails (abnormally shaped or formed fingernails and toenails). This syndrome was first described in a small number of patients, and very little is known about it in the medical literature. People with this condition are typically born with or develop a noticeable indentation of the breastbone and chest wall, which ca
At what age does Pectus excavatum-macrocephaly-dysplastic nails syndrome typically begin?
Typical onset of Pectus excavatum-macrocephaly-dysplastic nails syndrome is neonatal. Age of onset can vary across affected individuals.