Overview
De Hauwere syndrome, also known as hypertelorism with esophageal abnormality and hypospadias, is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The syndrome was first described by De Hauwere and colleagues and is characterized by a combination of distinctive facial features, problems with the esophagus (the tube that connects the mouth to the stomach), and genital abnormalities in males. The most notable facial feature is hypertelorism, which means the eyes are spaced unusually far apart. Affected individuals may also have esophageal atresia, a condition where the esophagus does not form properly and may not connect to the stomach, which can cause serious feeding difficulties at birth. Males with this condition may have hypospadias, where the opening of the urethra is on the underside of the penis rather than at the tip. Because so few cases have been reported in the medical literature, our understanding of this syndrome remains limited. Treatment is primarily surgical and supportive, focusing on correcting the esophageal and genital abnormalities and managing any other associated features. Early intervention by a team of specialists is important to address feeding problems and other complications that may arise in the newborn period.
Also known as:
Key symptoms:
Eyes spaced widely apart (hypertelorism)Esophagus that does not connect properly to the stomach (esophageal atresia)Abnormal opening of the urethra in males (hypospadias)Feeding difficulties in newbornsUnusual facial featuresPossible heart defectsPossible kidney abnormalitiesGrowth delaysBreathing difficulties at birth
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for De Hauwere syndrome.
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Specialists
View all specialists →No specialists are currently listed for De Hauwere 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 De Hauwere 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
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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 is the exact extent of my child's esophageal abnormality, and what surgical approach is recommended?,Are there any associated heart or kidney problems that need to be evaluated?,What feeding plan should we follow after esophageal surgery?,When should hypospadias repair be performed, and what can we expect from the surgery?,Is genetic testing available to identify the cause, and what does this mean for future pregnancies?,What specialists should be part of my child's long-term care team?,What developmental milestones should we watch for, and when should we be concerned?
Common questions about De Hauwere syndrome
What is De Hauwere syndrome?
De Hauwere syndrome, also known as hypertelorism with esophageal abnormality and hypospadias, is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The syndrome was first described by De Hauwere and colleagues and is characterized by a combination of distinctive facial features, problems with the esophagus (the tube that connects the mouth to the stomach), and genital abnormalities in males. The most notable facial feature is hypertelorism, which means the eyes are spaced unusually far apart. Affected individuals may also have esophagea
How is De Hauwere syndrome inherited?
De Hauwere syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does De Hauwere syndrome typically begin?
Typical onset of De Hauwere syndrome is neonatal. Age of onset can vary across affected individuals.