Overview
Tracheo-esophageal fistula-hypospadias syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic category. This means that the medical community no longer recognizes it as a distinct syndrome, and affected individuals may now be classified under other diagnoses. The condition was originally described as a combination of two birth defects: a tracheo-esophageal fistula (an abnormal connection between the windpipe and the food pipe) and hypospadias (a condition in boys where the opening of the urethra is on the underside of the penis rather than at the tip). A tracheo-esophageal fistula can cause serious problems with feeding and breathing in newborns, as food or saliva may enter the lungs. Hypospadias can affect urination and, later in life, reproductive function. Because this syndrome is now obsolete, patients who were previously given this diagnosis may benefit from a re-evaluation by a clinical geneticist to determine whether a more current diagnosis applies. Treatment has typically focused on surgical correction of both the fistula and the hypospadias, and outcomes depend on the severity of each defect and whether other abnormalities are present.
Key symptoms:
Abnormal connection between the windpipe and food pipeOpening of the urethra on the underside of the penisDifficulty feeding in newbornsChoking or coughing during feedingSaliva or food entering the lungsRecurrent lung infectionsDifficulty breathingAbnormal urine streamExcessive drooling in newbornsBloating of the stomach with air
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Tracheo-esophageal fistula-hypospadias 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 OBSOLETE: Tracheo-esophageal fistula-hypospadias 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.Is there an underlying genetic cause for my child's combination of birth defects?,Should we pursue genetic testing such as chromosomal microarray or whole exome sequencing?,What is the timeline for surgical repairs, and what are the risks?,What long-term complications should we watch for after surgery?,Will my child need any special feeding support or dietary changes?,Are there any implications for future pregnancies in our family?,Since this syndrome is now considered obsolete, does my child's condition fit a more current diagnosis?
Common questions about OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome
What is OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome?
Tracheo-esophageal fistula-hypospadias syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic category. This means that the medical community no longer recognizes it as a distinct syndrome, and affected individuals may now be classified under other diagnoses. The condition was originally described as a combination of two birth defects: a tracheo-esophageal fistula (an abnormal connection between the windpipe and the food pipe) and hypospadias (a condition in boys where the opening of the urethra is on the underside of
At what age does OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome typically begin?
Typical onset of OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome is neonatal. Age of onset can vary across affected individuals.