Overview
Odonto-onycho-hypohidrotic dysplasia with midline scalp defects syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: 'odonto' refers to teeth problems, 'onycho' refers to nail abnormalities, 'hypohidrotic dysplasia' means reduced ability to sweat along with abnormal development of structures derived from the ectoderm (the outer layer of the developing embryo that gives rise to skin, hair, nails, teeth, and sweat glands), and 'midline scalp defects' refers to areas of missing skin or hair along the center of the scalp that are present at birth. Children born with this condition may have missing or malformed teeth, thin or abnormally shaped nails, sparse hair, and difficulty sweating, which can lead to problems with overheating. The midline scalp defects, sometimes called aplasia cutis congenita, are often noticeable right at birth. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing each symptom individually, such as dental care for tooth problems, protecting the scalp defects until they heal, and taking precautions to avoid overheating due to reduced sweating. A team of specialists is usually needed to provide comprehensive care.
Key symptoms:
Missing or malformed teethThin, brittle, or abnormally shaped nailsReduced ability to sweatAreas of missing skin on the midline of the scalp at birthSparse or thin hairDry skinSensitivity to heat and risk of overheatingDelayed eruption of teethSmall or cone-shaped teethScalp scarring where skin was missing
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome.
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Specialists
View all specialists →No specialists are currently listed for Odonto-onycho-hypohidrotic dysplasia-midline scalp defects 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 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects 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.What specific features of this syndrome does my child have, and how severe are they?,Should we pursue genetic testing, and what would the results mean for our family?,What dental treatments will be needed as my child grows, and when should they start?,How can we best prevent overheating and heat-related emergencies?,Are there any signs of complications we should watch for at home?,Is there a risk that future children could also have this condition?,Can you refer us to a multidisciplinary team experienced with ectodermal dysplasias?
Common questions about Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome
What is Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome?
Odonto-onycho-hypohidrotic dysplasia with midline scalp defects syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its main features: 'odonto' refers to teeth problems, 'onycho' refers to nail abnormalities, 'hypohidrotic dysplasia' means reduced ability to sweat along with abnormal development of structures derived from the ectoderm (the outer layer of the developing embryo that gives rise to skin, hair, nails, teeth, and sweat glands), and 'midline scalp defects' refers to areas of missing skin or hair along the center
How is Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome inherited?
Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome typically begin?
Typical onset of Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome is neonatal. Age of onset can vary across affected individuals.