Overview
Congenital nasal pyriform aperture stenosis with holoprosencephaly is an extremely rare condition that combines two birth defects. The first part involves a narrowing of the pyriform aperture, which is the bony opening at the front of the nasal passages. This narrowing makes it very difficult for newborns to breathe through their nose, which is especially serious because young babies primarily breathe through their noses. The second part, holoprosencephaly, is a brain development problem where the front part of the brain (the forebrain) fails to divide properly into two halves during early pregnancy. Holoprosencephaly can range from mild to very severe and may cause facial differences, intellectual disability, seizures, and problems with hormone regulation. This condition is noted as 'OBSOLETE' in the Orphanet classification, meaning it has been reclassified or merged into broader diagnostic categories. It is now generally considered part of the holoprosencephaly spectrum, since nasal pyriform aperture stenosis can be one of the facial features seen in holoprosencephaly. Babies born with this combination typically present with breathing difficulties at birth and may have other midline facial abnormalities such as a single central front tooth (solitary median maxillary central incisor). Treatment depends on the severity and may include surgery to widen the nasal opening, supportive care for breathing, management of seizures, and hormone replacement therapy if the pituitary gland is affected. The overall outlook varies widely depending on how severely the brain is affected.
Also known as:
Key symptoms:
Difficulty breathing through the nose at birthNoisy breathing or snoring in newbornsFeeding difficulties due to inability to breathe while nursingEpisodes of turning blue (cyanosis) during feedingAbnormal brain developmentSeizuresIntellectual disabilitySingle central front toothClosely spaced eyes or a single eye in severe casesFlat or underdeveloped midfaceCleft lip or palateHormone problems due to pituitary gland issuesDevelopmental delaysPoor muscle toneGrowth problems
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly.
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: Congenital nasal pyriform aperture stenosis with holoprosencephaly.
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.How severe is the holoprosencephaly in my child, and what does that mean for their development?,Does my child need surgery to open the nasal passages, and what are the risks?,Should we test for hormone deficiencies, and how often should these be monitored?,What genetic testing should be done, and does this affect the chance of having another child with this condition?,What developmental therapies should we start, and how soon?,What should I do if my child has a seizure at home?,Are there any clinical trials or new treatments being studied for holoprosencephaly?
Common questions about OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly
What is OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly?
Congenital nasal pyriform aperture stenosis with holoprosencephaly is an extremely rare condition that combines two birth defects. The first part involves a narrowing of the pyriform aperture, which is the bony opening at the front of the nasal passages. This narrowing makes it very difficult for newborns to breathe through their nose, which is especially serious because young babies primarily breathe through their noses. The second part, holoprosencephaly, is a brain development problem where the front part of the brain (the forebrain) fails to divide properly into two halves during early pre
At what age does OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly typically begin?
Typical onset of OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly is neonatal. Age of onset can vary across affected individuals.