What is Terminal myelocystocele?
Terminal myelocystocele does not yet have FDA-approved treatments tracked on UniteRare.
- Inheritance
- Sporadic
- Usually appears on its own, not inherited from a parent
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Terminal myelocystocele.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Terminal myelocystocele at this time.
New trials open frequently. Follow this disease to get notified.
Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Terminal myelocystocele.
Community
No community posts yet. Be the first to share your experience with Terminal myelocystocele.
Start the conversation →Latest news about Terminal myelocystocele
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Terminal myelocystocele.
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.
Common questions about Terminal myelocystocele
What is Terminal myelocystocele?
Terminal myelocystocele is a rare form of closed (skin-covered) spinal dysraphism, classified as a type of spina bifida. In this condition, the terminal portion of the spinal cord herniates through a posterior bony defect in the lower spine (typically the sacral region) and forms a cyst-like dilation of the central canal (hydromyelia) that expands into a meningocele sac. Unlike open neural tube defects, the lesion is covered by skin, which may appear as a large, skin-covered lumbosacral mass at birth. Terminal myelocystocele is sometimes referred to as syringocele or terminal syringocele and f
How is Terminal myelocystocele inherited?
Terminal myelocystocele follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Terminal myelocystocele typically begin?
Typical onset of Terminal myelocystocele is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Terminal myelocystocele?
15 specialists and care centers treating Terminal myelocystocele are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
Frequently asked questions about Terminal myelocystocele
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Terminal myelocystocele?
Terminal myelocystocele is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:645337). It is typically inherited as sporadic. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Terminal myelocystocele page.
How is Terminal myelocystocele inherited?
Terminal myelocystocele follows sporadic inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Terminal myelocystocele?
Approved treatments for Terminal myelocystocele are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Terminal myelocystocele?
Active clinical trials for Terminal myelocystocele are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Terminal myelocystocele?
UniteRare lists 15 verified clinicians with documented expertise in Terminal myelocystocele, sourced from ClinicalTrials.gov principal-investigator records, PubMed publication histories, and the NPPES NPI registry. Filter by state or browse our state-specific specialist pages for nearby options.
See full Terminal myelocystocele page for complete clinical details, sources, and verified-specialist listings.
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