What is Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome?
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome is an extremely rare condition that affects the development of the teeth, face, and legs. The name describes its three main features: teeth that fail to come through the gums (non-eruption), underdevelopment of the upper jaw (maxillary hypoplasia), and knock-knees (genu valgum), where the knees angle inward when standing. This syndrome was first described in a small number of patients and remains very poorly understood due to its rarity. People with this condition typically notice that their permanent teeth do not emerge as expected during childhood. The upper jaw may appear flattened or set back compared to the lower jaw, which can affect the appearance of the face and may cause difficulties with chewing or bite alignment. The knock-knee deformity can affect walking and may cause discomfort or joint problems over time. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually. Dental and orthodontic interventions may be needed to manage the non-erupting teeth, including surgical exposure of teeth or prosthetic replacements. Orthopedic care can help manage the genu valgum, sometimes with bracing or, in more severe cases, corrective surgery. Maxillary hypoplasia may be addressed through orthodontic treatment or jaw surgery. A team of specialists working together provides the best outcomes for affected individuals.
Also known as:
Key symptoms:
Teeth that fail to come through the gumsUnderdeveloped upper jawKnock-knees (knees angling inward)Flat or sunken midface appearanceBite problems or misaligned teethDifficulty chewingAbnormal walking patternDelayed dental developmentKnee or leg painMissing or impacted permanent teeth
Clinical phenotype terms (8)— hover any for plain English
- Maxillozygomatic hypoplasiaHP:0005439
- Alveolar process hypoplasiaHP:0006329
- Inheritance
- Autosomal dominant
- Passed on from just one parent; each child has about a 50% chance of inheriting it
- Age of Onset
- Childhood
- Begins in childhood, roughly ages 1 to 12
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome.
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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome.
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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome.
Community
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Start the conversation →Latest news about Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome.
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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 is the best approach to manage my child's unerupted teeth — can they be guided into place or will prosthetics be needed?,At what age should we consider jaw surgery for the underdeveloped upper jaw?,How severe is the knock-knee deformity, and will it need surgical correction?,Should we pursue genetic testing to look for an underlying cause?,How often should we schedule follow-up visits with each specialist?,Are there any other conditions we should screen for given these symptoms?,What can we do at home to support our child's dental health and physical development?
Common questions about Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
What is Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome?
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome is an extremely rare condition that affects the development of the teeth, face, and legs. The name describes its three main features: teeth that fail to come through the gums (non-eruption), underdevelopment of the upper jaw (maxillary hypoplasia), and knock-knees (genu valgum), where the knees angle inward when standing. This syndrome was first described in a small number of patients and remains very poorly understood due to its rarity. People with this condition typically notice that their permanent teeth do not emerge as expec
How is Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome inherited?
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome typically begin?
Typical onset of Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome is childhood. Age of onset can vary across affected individuals.
Frequently asked questions about Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome?
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:2972, OMIM 273050). It is typically inherited as autosomal dominant. Age of onset is generally childhood. For verified primary sources, see the UniteRare Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome page.
How is Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome inherited?
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome follows autosomal dominant 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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome?
Approved treatments for Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome?
Active clinical trials for Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome?
Verified Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome page for complete clinical details, sources, and verified-specialist listings.
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