Verloes-Bourguignon syndrome is a very rare, inherited condition that mainly affects the teeth and the spine. Children usually have weak or very thin tooth enamel (a problem called “amelogenesis imperfecta”) and a short trunk due to flat spinal bones (a pattern called “brachyolmia” with platyspondyly). Many people also have short overall height, gaps between teeth, and a small upper jaw. The condition is autosomal recessive, which means a child is affected when they receive the non-working gene copy from both parents. In most families studied so far, changes (“variants”) in a gene called LTBP3 are responsible. This gene helps control TGF-β signaling—an important pathway that guides bone and tooth development—so when LTBP3 does not work, enamel does not form normally and spine growth is altered. orpha.net+3PMC+3PubMed+3
Verloes-Bourguignon syndrome (VBS)—also called brachyolmia–amelogenesis imperfecta syndrome or Dental Anomalies and Short Stature (DASS). VBS is an ultra-rare, inherited bone-and-tooth development disorder. Children typically have short-trunk short stature with mild platyspondyly (flattened vertebrae) and amelogenesis imperfecta (very thin or nearly absent tooth enamel). Most families reported so far have bi-allelic variants in the LTBP3 gene, which regulates TGF-β signaling important for bone and enamel formation. Some case series also describe cardiovascular involvement (mitral valve prolapse, aortic root dilatation, or aneurysm), so heart screening matters. There’s no disease-specific, FDA-approved curative drug; care focuses on early, supportive, and preventive management tailored to bones, spine, teeth, growth, and heart. cags.org.ae+4OUP Academic+4europepmc.org+4
Verloes-Bourguignon syndrome is a genetic condition present from childhood that affects how bones and teeth grow. The spine bones can be flattened (platyspondyly) and the trunk looks short. Teeth may be small, spaced, yellow, and have little or no enamel, so they wear down fast and get cavities easily (amelogenesis imperfecta). The condition usually runs in families in an autosomal recessive way, linked to changes in the LTBP3 gene, which helps control signals (TGF-β) that tell body tissues how to build bone and tooth enamel. Some people may also have heart valve problems or wider parts of the aorta that need monitoring. Treatment aims to protect teeth, support the spine, ease daily function, and watch the heart; there is no single curative pill for the syndrome. orpha.net+2OUP Academic+2
Other names
Doctors and genetics databases use several alternate names for the same disorder. All of the terms below refer to the Verloes-Bourguignon syndrome spectrum described above.
Brachyolmia-amelogenesis imperfecta syndrome.
Skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
Platyspondyly with amelogenesis imperfecta.
Dental Anomalies and Short Stature (DASS).
Tooth agenesis, selective, 6 (STHAG6) – a legacy label you may still see in some resources.
These synonyms appear in recognized references and map to the same MONDO/OMIM/Orphanet entries for this condition. cags.org.ae+3orpha.net+3NCBI+3
Types
There are no strict “subtypes” with different names that are widely accepted. Clinicians usually think of types along a clinical spectrum:
Classic brachyolmia-AI pattern. Marked enamel thinning or near absence of enamel plus generalized platyspondyly on spine X-rays; short trunk and short stature are common. PMC
DASS-dominant presentation. Dental problems (hypoplastic enamel, missing teeth, small/yellow teeth) with short stature; the spine changes may be mild but still present on imaging. malacards.org+1
Expanded spectrum with extra features. Some LTBP3-related cases report facial/jaw underdevelopment and, in a few families, vascular involvement (e.g., thoracic aortic disease) alongside the core dental-skeletal picture. Clinicians still consider these within the same gene-defined disorder. PubMed
Causes
For a rare genetic syndrome, “cause” mainly means the underlying biology and the specific ways the gene change disrupts growth. Below are 20 contributors, each described briefly. Items 1–8 are primary causes; items 9–20 are factors that shape severity and features.
Biallelic LTBP3 loss-of-function variants. The direct cause. Both copies of LTBP3 carry a harmful change (nonsense, frameshift, splice, or severe missense), leading to very low or absent protein function. PMC
Autosomal recessive inheritance. Each parent usually carries one non-working copy; the child inherits both. This pattern explains family clustering in consanguineous families. PMC
Disrupted TGF-β signaling. LTBP3 helps present and regulate TGF-β in the extracellular matrix. When this fails, signals that guide bone and tooth formation are impaired. PMC
Enamel matrix formation failure. Ameloblasts cannot lay down a normal enamel layer, producing thin, soft, or nearly absent enamel (hypoplastic AI). PMC
Abnormal vertebral growth. TGF-β pathway imbalance alters growth-plate and matrix dynamics in vertebral bodies, leading to platyspondyly (flat vertebrae) and a short trunk. PMC
Craniofacial growth disturbance. Underdevelopment of the maxilla and midface can follow from altered matrix and signaling during facial bone growth. PubMed
Tooth development arrest (hypodontia/oligodontia). Missing teeth result from early disruption of dental placode/lamina processes tied to TGF-β activity. PubMed
Scoliosis predisposition. Flattened vertebrae change spinal mechanics and alignment, increasing the chance of curvature. (Mechanistic inference consistent with brachyolmia.) PubMed
Variant type and location. Nonsense/frameshift vs. certain splice/missense variants can yield different amounts of residual protein, affecting severity. PMC
Modifier genes. Other genes in enamel or bone pathways may tune how severe the teeth and spine findings become—this is seen as “inter- and intrafamilial variability.” malacards.org
Matrix assembly defects. LTBP3 anchors latent TGF-β to the matrix; failure changes local tissue stiffness and signaling gradients that bones and teeth rely on. PMC
Abnormal calcium handling in enamel formation. Enamel mineralization relies on precise signaling and matrix control; when signaling is off, mineral deposition is weak. (Mechanistic link consistent with AI literature.) PMC
Growth-plate timing issues. If vertebral growth is altered early and continuously, final height and trunk length are reduced. (Clinical pattern in brachyolmia.) PubMed
Jaw growth and occlusion cascade. A small upper jaw and weak enamel change bite forces, which can worsen dental wear and spacing over time. PubMed
Consanguinity. Parents who are relatives are more likely to share the same LTBP3 variant, increasing risk in offspring. (Observed in several reports.) PMC
Nutritional stress on weak enamel. Acidic diets and poor oral hygiene do not cause the syndrome but can worsen symptoms like tooth wear and sensitivity in already thin enamel. (General dental principle applied to AI.) PMC
Delayed diagnosis. Without early protective dental care, enamel loss accelerates, increasing cavities and pain. (Clinical course typical of AI.) PMC
Mechanical load on a flat spine. Everyday loading on platyspondylous vertebrae can contribute to back pain and curvature over time. (Pattern in brachyolmia.) PubMed
Possible vascular involvement in some families. A few LTBP3-related series reported thoracic aortic disease; this does not cause the syndrome but adds risk in selected cases. PubMed
Health-care access. Because the disorder is rare, late recognition can limit supportive treatments that prevent avoidable complications. (General point for rare diseases.)
Common symptoms
Teeth with very thin or absent enamel. Teeth may look small, yellow or brown, and chip easily. This is due to hypoplastic amelogenesis imperfecta. Pain with cold or hot foods is common. PMC
Multiple missing teeth. Some primary or permanent teeth never develop (hypodontia or oligodontia), creating spacing and chewing problems. PubMed
Short stature. Height is often below average. The shortness is usually most noticeable in the trunk. PubMed
Short trunk with a normal-looking limb length. This pattern matches brachyolmia, where the vertebral bodies are flat, not the long bones. PubMed
Back curvature (scoliosis) or posture issues. Flattened vertebrae and altered mechanics can lead to a curved spine or stiffness. PubMed
Back pain or fatigue after activity. Mechanical stress on the flat spinal bones can cause discomfort in older children and adults. (Consistent with brachyolmia.) PubMed
Jaw underdevelopment (maxillary hypoplasia). The upper jaw may be small, which changes the bite and facial profile and can make speech or chewing harder. PubMed
Dental sensitivity and rapid wear. Because enamel is thin or absent, teeth wear down quickly, especially on chewing surfaces. PMC
Frequent cavities. Soft, thin enamel and surface pits make decay more likely unless preventive care starts early. PMC
Spacing and cosmetic concerns. Missing and small teeth often cause wide gaps. This can affect confidence and social interaction. malacards.org
Speech or feeding difficulties. Malocclusion and sensitivity may delay certain speech sounds or make chewing some textures uncomfortable. (AI-related functional impact.) PMC
Gum irritation. Plaque retention around misshaped teeth may inflame gums if hygiene is difficult. (General AI care principle.) PMC
Short neck appearance or reduced spinal flexibility. The trunk is short, and the spine may feel stiff. (Brachyolmia pattern.) PubMed
Psychosocial stress. Visible dental differences can affect self-esteem at school and in social settings. Early dental rehabilitation can help. PMC
Occasional extra features in some families. Rare reports describe vascular findings (thoracic aorta disease); most people do not have this, but selected screening may be advised in some lineages. PubMed
How doctors diagnose it
Diagnosis is based on the pattern of tooth and spine findings plus genetic testing. Below I group 20 commonly used tests into five categories and explain what each adds.
A) Physical examination
General growth and body proportions. The doctor measures height and compares trunk length to limbs. A short trunk with relatively normal limbs suggests brachyolmia. PubMed
Spinal inspection and forward-bend test. The clinician looks for curvature, rib hump, or asymmetry that could indicate scoliosis. (Typical scoliosis screening method.) PubMed
Dental inspection under good lighting. Thin, pitted, or missing enamel; small/yellow teeth; and gaps are classic clues to hypoplastic AI in this syndrome. PMC
Craniofacial assessment. The doctor evaluates jaw size, bite relation, and midface profile, because maxillary hypoplasia and malocclusion are common. PubMed
Family history and consanguinity check. Asking about relatives with similar features helps define the recessive pattern and guides genetic testing. PMC
B) Manual/clinical dental–orthopedic tests
Tooth percussion and thermal sensitivity tests. Gentle tapping and hot/cold stimuli help judge enamel protection and dentin exposure, which guide pain control and restorations. (Standard dental practice in AI.) PMC
Occlusion (bite) evaluation. The dentist checks how teeth meet, overjet/overbite, and functional shifts that may require orthodontics or jaw orthopedics. PMC
Spinal range-of-motion exam. Flexion, extension, and rotation help document stiffness and guide physical therapy for comfort and posture. (Common in brachyolmia care.) PubMed
Gait and posture assessment. Observation for compensatory postures that may develop with a short trunk or scoliosis helps plan therapy or bracing. (Orthopedic clinical practice.) PubMed
C) Laboratory and pathological tests
Genetic testing of the LTBP3 gene. This is the key confirmatory test. Sequencing (and copy-number analysis) looks for biallelic pathogenic variants. Many case series have proven LTBP3 as the cause. PMC+1
Targeted variant testing for relatives. Once a family’s variants are known, parents and siblings can be tested for carrier status or early diagnosis. (Genetic counseling standard.) PMC
Enamel/dentin histology (when extracted teeth are available). Microscopy can show very thin or absent enamel layers consistent with hypoplastic AI. (AI pathology principle.) PMC
Basic metabolic panels (calcium, phosphate, vitamin D). These are usually normal but help exclude metabolic causes of enamel or bone problems. (Diagnostic exclusion step.) PMC
Aortic risk screening labs if indicated by family history. While not typical, selected families with reported vascular involvement may undergo a cardiology workup that can include biomarkers alongside imaging (see below). PubMed
D) Electrodiagnostic/cardiopulmonary tests
Electrocardiogram (ECG). If there are cardiac symptoms or a family history suggesting vascular disease, an ECG is a low-risk screen as part of a broader cardiac check. (Adjunct to imaging.) PubMed
Pulmonary function testing (when scoliosis is moderate–severe). Significant spinal curvature may affect lung mechanics; simple spirometry can be informative. (Orthopedic respiratory practice.) PubMed
Sleep study (if symptoms of sleep-disordered breathing). Jaw hypoplasia and dental crowding can relate to airway issues; a sleep study is considered if there are symptoms. (General craniofacial care principle.) PubMed
E) Imaging tests
Spine X-rays (standing AP and lateral). These show generalized platyspondyly and help measure scoliosis angles. This is the main radiographic hallmark of brachyolmia. PubMed
Full skeletal survey (as needed). Radiographs of pelvis and long bones help confirm that the primary changes are in the spine and check for hip alignment and coxa valga described in some series. monarchinitiative.org
Panoramic dental radiograph (OPG). This shows missing teeth, unerupted buds, crown shape, and enamel thickness to plan restorations and implants. (Standard AI evaluation.) PMC
Cone-beam CT (CBCT) of jaws (when planning care). Gives 3-D detail for implant timing, root length, and bone volume; useful because enamel is poor and tooth loss risk is high. (Dental imaging practice.) PMC
Echocardiogram (selected families). Not routine for everyone, but if the family has known LTBP3-related aortic disease, echo screens the aortic root and valves. PubMed
CT/MR angiography (selected families). Vascular imaging is reserved for concerning echocardiogram findings or strong family history. PubMed
Whole-body standing EOS/low-dose imaging (if available). Helps evaluate global alignment in scoliosis with lower radiation exposure—useful for follow-up in growing children. (Orthopedic imaging practice.) PubMed
Non-pharmacological treatments (therapies & others)
Important note: Because VBS is ultra-rare and evidence is drawn from case reports/series and related conditions, the strategies below are best-practice, supportive measures used for amelogenesis imperfecta, skeletal dysplasia with brachyolmia, and heritable aortopathy surveillance. There are no disease-specific randomized trials. OUP Academic+1
Early comprehensive dental care (pediatric dentistry) — 150 words; purpose & mechanism
Start by age 1–2 with frequent check-ups, oral hygiene coaching, and caries-risk control. Fragile enamel in AI means teeth wear and decay quickly; early dental homes allow sealants, desensitizers, and protective restorations before damage accumulates. Mechanism: frequent plaque removal and fluoride exposure harden remaining enamel and dentin, reduce acid attack, and limit bacterial growth. Care plans set recall every 3–4 months, coordinate radiographs when tolerated, and plan staged restorations. Families learn brushing with fluoride toothpaste twice daily and flossing support. Customized trays for neutral sodium fluoride gels or varnish visits may be added in high-risk children. The goal is to preserve tooth structure, reduce pain, and delay complex procedures. BioMed Central+1Restorative coverage (composite/stainless-steel crowns in children; full-coverage crowns in teens/adults)
Primary molars often receive stainless-steel crowns; permanent teeth may need adhesive composites or full-coverage crowns to stop attrition, sensitivity, and pulp exposure. Mechanism: crowns create a durable barrier over hypoplastic enamel/dentin, restoring vertical dimension and function. BioMed CentralOcclusal splints/night guards to limit attrition
Custom guards reduce grinding wear and protect restorations. Mechanism: mechanical load distribution and separation of tooth surfaces at night. BioMed CentralDesensitizing protocols (professional varnish + home agents)
Professional fluoride varnish applications plus home desensitizers reduce pain from exposed dentin. Mechanism: fluoride and occluding agents decrease dentin tubule permeability. BioMed CentralOrthodontic planning with restorative sequencing
Orthodontics is timed with enamel protection; heavy forces are avoided; anchorage plans consider crown retention. Mechanism: controlled tooth movement aligned with restorative coverage preserves tooth structure and function. BioMed CentralDietary sugar reduction and neutralization routines
Limit fermentable carbohydrates; rinse with water or sugar-free xylitol gum after meals. Mechanism: reduces acid challenges and supports remineralization. BioMed CentralPhysical therapy for spine mobility and core strength
Brachyolmia can bring stiffness and posture issues. PT teaches postural training, gentle spinal mobility work, and core strengthening to improve endurance and reduce back pain. Mechanism: neuromuscular conditioning and joint-friendly movement promote function and reduce strain on flattened vertebrae. BioMed CentralErgonomic and activity modification
Back-friendly lifting, school seating adjustments, and gradual aerobic activity (swimming/cycling) reduce axial load. Mechanism: minimizes repetitive compressive forces on vertebrae with platyspondyly. BioMed CentralScoliosis and kyphosis surveillance with periodic imaging
Short-trunk skeletal dysplasias can develop curve progression; early detection guides bracing or surgical referral timing. Mechanism: radiographic monitoring tracks Cobb angles and growth. BioMed CentralCardiology surveillance (echo ± CT/MR angiography per risk)
Because LTBP3-related phenotypes can include valve prolapse and aortic dilation, schedule baseline and interval imaging. Mechanism: catching diameter changes early prevents complications and informs thresholds for intervention, borrowing standards from heritable thoracic aortic disease care. PubMed+1Genetic counseling for families
Explains autosomal recessive inheritance, recurrence risk, and options for carrier testing. Mechanism: informed reproductive planning and cascade testing. OUP AcademicSpeech and feeding support when dentition affects chewing
Soft diets, adaptive utensils, and pacing help when sensitivity or missing enamel limits chewing. Mechanism: reduces pain and preserves nutrition. BioMed CentralPsychosocial support and school accommodations
Visible tooth differences and short stature can affect self-esteem. Mechanism: counseling and accommodations (breaks for back pain, dental visits) improve participation. BioMed CentralFluoride hygiene coaching (family-centered)
Standardize twice-daily fluoride toothpaste and supervised brushing. Mechanism: enhances remineralization of residual enamel/dentin. BioMed CentralCustom mouthguards for sports
Protects restored teeth from trauma. Mechanism: shock absorption and force distribution. BioMed CentralMultidisciplinary clinic coordination (dentist, orthodontist, prosthodontist, geneticist, cardiologist, physiatrist)
Mechanism: shared plans limit duplicated radiation, sequence care effectively, and track outcomes consistently. BioMed CentralSunlight/weight-bearing guidance for bone health consistent with spine precautions
Gentle weight-bearing within comfort supports bone remodeling while avoiding high-impact loads. Mechanism: mechanotransduction without overload. BioMed CentralBracing when indicated for progressive curves
Used selectively by orthopedics for scoliosis/kyphosis. Mechanism: external support to slow curve progression during growth. BioMed CentralCaries-control sealants where enamel permits bonding
Mechanism: resin sealants block fissures against acid/bacteria; technique adjusted for hypoplastic enamel. BioMed CentralRegular recall schedule (3–6 months) with radiographs as needed
Mechanism: short intervals catch demineralization or restoration failure early. BioMed Central
Drug treatments
Critical disclaimer: There is no FDA-approved drug that treats VBS itself. The medications below are standard, FDA-labeled products used off-label to treat symptoms or comorbidities (pain, infection risk, oral hygiene, blood pressure/aortic risk in those with documented dilation). Label citations below come from accessdata.fda.gov for safety/standard use; indications there are not VBS-specific. Decisions must be individualized by your specialists. OUP Academic+1
Chlorhexidine 0.12% oral rinse — class: topical antiseptic; typical dose: 15 mL rinse for 30 sec twice daily after brushing; timing: short-term courses per dentist. Purpose: reduce plaque/gingivitis when hygiene is difficult due to sensitive enamel. Mechanism: cationic bis-biguanide binds oral surfaces and disrupts microbial membranes, lowering bacterial load. Side effects: staining, taste alteration, calculus increase; avoid swallowing. FDA Access Data+1
Fluoride varnish 5% (device/drug product) — class: topical fluoride (often regulated as device; 510(k) cleared products). Dose: professionally applied thin layer to teeth at 3–6-month intervals. Purpose: caries prevention/desensitization in AI. Mechanism: fluoride promotes remineralization and tubule occlusion. Side effects: rare allergy; transient white film. FDA Access Data+1
Sodium fluoride home gel/rinse — class: topical fluoride; Dose: per product (e.g., once daily gel in trays). Purpose: boost remineralization between visits. Mechanism: increases fluoride availability on tooth surfaces. Side effects: dental fluorosis risk if misused in young children; supervise. (General fluoride labeling principles.) FDA Access Data
Ibuprofen — class: NSAID; Dose (adults OTC example): 200–400 mg every 4–6 h as needed (lowest effective dose); Purpose: dental pain or musculoskeletal discomfort. Mechanism: COX inhibition lowers prostaglandins. Side effects: GI bleeding/ulcer, renal risk, CV warnings—avoid around CABG; use caution. FDA Access Data+1
Acetaminophen (paracetamol) — class: analgesic/antipyretic; Dose: per label maximum daily dose limits. Purpose: alternative for pain if NSAIDs contraindicated. Mechanism: central analgesic action. Side effects: hepatotoxicity with overdose/alcohol. (General FDA monograph labeling.) FDA Access Data
Topical desensitizing agents (e.g., potassium nitrate pastes; Rx varnishes) — class: topical dentin desensitizers. Purpose: reduce tooth sensitivity to allow brushing/restorations. Mechanism: tubule occlusion or nerve depolarization reduction. Side effects: local irritation. (Professional fluoride/desensitizer labeling landscape.) FDA Access Data
Amoxicillin (per dental infection when indicated) — class: beta-lactam antibiotic; Dose/Timing: per dental infection protocols. Purpose: treat acute odontogenic infections complicating AI. Mechanism: inhibits bacterial cell wall synthesis. Side effects: allergy, diarrhea; stewardship essential. (General FDA labeling for amoxicillin.) FDA Access Data
Clindamycin (if penicillin-allergic, when indicated) — class: lincosamide antibiotic; Purpose: alternative for odontogenic infections. Mechanism: 50S ribosomal inhibition. Side effects: C. difficile diarrhea risk—use cautiously. (General FDA labeling.) FDA Access Data
Losartan — class: angiotensin receptor blocker; Typical use here: only if there is coexisting aortic root dilation/hypertension per cardiology; Dose: as per hypertension label; Purpose: BP control and, by analogy from Marfan/HTAD care, possible TGF-β pathway modulation; Mechanism: AT1 blockade lowers wall stress. Side effects: fetal toxicity (boxed warning), hyperkalemia, hypotension. Off-label for dilation prevention; follow aortic guidelines. FDA Access Data+1
Propranolol (or another β-blocker) — class: beta-adrenergic blocker; Use: only under cardiology for patients with documented aortic disease or rate control needs. Mechanism: reduces dP/dt and aortic wall stress. Side effects: bradycardia, fatigue, bronchospasm in asthma. Off-label in this context; follow HTAD guidance. FDA Access Data+1
Topical chlorhexidine gel at restorations — adjunct for plaque-prone margins. Mechanism/Purpose: local antisepsis around difficult enamel. Side effects: local staining. FDA Access Data
Topical fluoride toothpaste (Rx 1.1% NaF for high risk) — Purpose: daily high-fluoride exposure when caries risk is extreme. Mechanism: remineralization. Side effects: fluorosis risk in small children; supervise. (High-fluoride dentifrice labeling context.) FDA Access Data
Short-course topical anesthetics during procedures (e.g., lidocaine gels) — Purpose: comfort for hypersensitive teeth during cleaning. Mechanism: sodium channel blockade. Side effects: local numbness. (FDA topical anesthetic labeling.) FDA Access Data
Antiseptic mouthrinses without alcohol (for sensitive tissues) — Purpose: support hygiene if brushing hurts. Mechanism: reduce microbial load. Side effects: taste changes. FDA Access Data
Prescription fluoride trays (neutral NaF gel) — Purpose: nightly remineralization when enamel is minimal. Mechanism: sustained fluoride contact. Side effects: ingestion risk—use small amounts. FDA Access Data
Analgesic rotation plans (acetaminophen–ibuprofen alternating) as dentist directs — Purpose: better pain control post-restoration. Mechanism: multimodal analgesia. Side effects: follow both labels strictly. FDA Access Data
Antimicrobial varnishes where indicated — Purpose: combine desensitization with bacterial control at cervical margins. Mechanism: physical barrier + antimicrobial. (Device clearances.) FDA Access Data
Saliva substitutes for xerostomia (if present) — Purpose: protect enamel surfaces when saliva is low. Mechanism: lubricants and remineralizing ions. Side effects: minimal. (FDA saliva substitute labeling.) FDA Access Data
Topical calcium/phosphate pastes (casein-derived) if tolerated — Purpose: promote remineralization. Mechanism: local supersaturation with Ca/PO₄. Side effects: avoid in milk protein allergy. (Device/product summaries.) FDA Access Data
Procedural local anesthetics and epinephrine as per dental standards — Purpose: permit comfortable, precise restorative dentistry. Mechanism: nerve blockade ± vasoconstriction. Side effects: cardiovascular cautions. (FDA anesthetic labeling.) FDA Access Data
Dietary molecular supplements
Note: Supplements do not treat the gene change but can support oral and bone health and are commonly used in dental/high-caries or bone-health programs. Always discuss with your clinicians to avoid excesses or interactions. BioMed Central
Fluoride (professional & at-home exposure) — strengthens tooth surfaces and reduces acid damage; dosing follows dentist instructions to avoid fluorosis in children. FDA Access Data
Calcium — meets daily needs for teeth/bones; mechanism: provides mineral substrate for remineralization and skeletal health. (General nutrition guidance used in dental caries prevention programs.) BioMed Central
Vitamin D — supports calcium absorption and bone remodeling; check blood levels before dosing. BioMed Central
Phosphate (balanced diet) — works with calcium to form hydroxyapatite; avoid extremes. BioMed Central
Xylitol (sugar-free gum/mints) — non-fermentable sweetener that reduces cariogenic bacteria activity and stimulates saliva. BioMed Central
Casein-phosphopeptide–amorphous calcium phosphate (CPP-ACP) pastes — local remineralization aid for high-risk enamel. FDA Access Data
Arginine-containing pastes — can shift plaque ecology toward less acidogenic species; may reduce sensitivity. BioMed Central
Magnesium (dietary adequacy) — cofactor in bone metabolism; maintain recommended intake only. BioMed Central
Omega-3s — anti-inflammatory dietary pattern can support periodontal health alongside hygiene. BioMed Central
Probiotics (oral/lozenge forms) — adjunct to hygiene; aim to rebalance oral microbiome in high caries risk; evidence variable. BioMed Central
Drugs as “immunity boosters / regenerative / stem-cell drugs
Transparency first: There are no FDA-approved “immunity boosters,” regenerative medicines, or stem-cell drugs for VBS. Below are general clinical realities to prevent misinformation. OUP Academic
Vaccinations (routine per age) — Not a “drug for VBS,” but keeping routine vaccines up-to-date lowers infection burden that can worsen dental outcomes after procedures. Mechanism: antigen-specific immune protection. BioMed Central
Topical fluoride therapies — Support local tissue resilience (enamel/dentin), not systemic immunity. Mechanism: remineralization and acid resistance. FDA Access Data
Nutritional optimization (Vitamin D/calcium) — Supports bone metabolism; not regenerative gene therapy. Mechanism: mineral and endocrine support for bone. BioMed Central
No approved stem-cell product for VBS — Dental regenerative research exists, but not approved for AI in VBS; use only in clinical trials with IRB oversight. Mechanism: investigational tissue engineering. OUP Academic
Losartan / β-blockers — Sometimes discussed in TGF-β–related aortopathies, off-label for aortic protection if dilation coexists; not “immune boosters.” Mechanism: BP and wall-stress reduction; possibly affects signaling pathways. ahajournals.org
Topical calcium/phosphate (CPP-ACP) pastes — “Regenerative-adjacent” for enamel support locally, not systemically. Mechanism: delivers calcium/phosphate to lesions. FDA Access Data
Surgeries (what they are & why done)
Extensive dental rehabilitation under general anesthesia — For multiple teeth needing crowns/restorations when office sessions are intolerable or long. Why: restore function, stop pain, protect pulps in one setting for young children/high anxiety. BioMed Central
Orthognathic or occlusal reconstruction in late teens/adulthood (selected cases) — Why: correct severe occlusal vertical dimension loss or jaw discrepancies after years of attrition and restorative cycles. BioMed Central
Spinal surgery for progressive, refractory scoliosis/kyphosis — Why: when curves progress and bracing fails, to prevent functional decline or cardiopulmonary compromise. BioMed Central
Aortic surgery (root/ascending repair) if heritable aortopathy criteria are met — Why: prevent dissection/rupture when measurements hit guideline thresholds. Managed at experienced centers. PMC
Valve repair/replacement (mitral/aortic) if significant dysfunction — Why: treat symptomatic regurgitation or stenosis documented on echocardiography. PubMed
Preventions
Twice-daily fluoride toothpaste brushing; parent-assisted for young kids. BioMed Central
Dental visits every 3–6 months for cleaning, varnish, and early repairs. BioMed Central
Sugar-smart diet: limit sweets/soft drinks; prefer water and fiber-rich foods. BioMed Central
Custom mouthguards for sports. BioMed Central
Night guards if bruxism. BioMed Central
Posture and core exercises per PT to reduce back pain and strain. BioMed Central
Scheduled cardiology imaging if any aortic/valve concern. ahajournals.org
Avoid tobacco exposure; protect oral and vascular health. Methodist DeBakey Cardiovascular J
Vaccination up to date to lower peri-dental procedure infection risk. BioMed Central
Family genetic counseling for future planning. OUP Academic
When to see doctors (red flags & routine)
Dentist: tooth pain/sensitivity, visible wear/chipping, gum bleeding, or every 3–6 months even if asymptomatic (AI needs proactive care). BioMed Central
Orthopedist/physiatrist: new or worsening back pain, posture/curve changes, reduced walking tolerance. BioMed Central
Cardiologist (urgently if symptomatic): chest pain, sudden back pain, fainting, palpitations, or if you have known aortic dilation/valve issues per your surveillance plan. Routine: baseline and periodic imaging as guided. PMC
Geneticist/genetic counselor: at diagnosis, before pregnancy, or if relatives have similar features. OUP Academic
What to eat & what to avoid
Eat: dairy or fortified alternatives for calcium; avoid: frequent sugary drinks/candies that bathe weak enamel. BioMed Central
Eat: high-protein soft foods when teeth are sensitive (eggs, fish, legumes); avoid: hard candies and ice chewing. BioMed Central
Eat: crunchy raw veggies (carrot/cucumber) with meals to stimulate saliva; avoid: constant snacking. BioMed Central
Drink: water or milk; avoid: sipping acidic juices/colas throughout the day. BioMed Central
Include: vitamin D sources (fortified milk/eggs/fish); avoid: fad supplements in excess without labs. BioMed Central
Use: xylitol gum after meals if age-appropriate; avoid: bedtime sugary snacks. BioMed Central
Aim: balanced calcium-phosphate intake; avoid: extreme restrictive diets that miss minerals. BioMed Central
Choose: softer textures post-restoration; avoid: sticky caramels that pull off crowns. BioMed Central
Time: sweet foods with meals, not as between-meal grazes. BioMed Central
Rinse: water after acidic foods; brush after 30 minutes to protect softened enamel. BioMed Central
FAQs
1) Is there a cure for Verloes-Bourguignon syndrome?
No. Care focuses on protecting teeth, supporting spine function, and monitoring the heart. OUP Academic
2) Which gene is involved?
Most families reported have LTBP3 variants; inheritance is usually autosomal recessive. OUP Academic
3) How common is it?
Extremely rare; only scattered families and case reports exist worldwide. PMC
4) Why are the teeth so weak?
Because of amelogenesis imperfecta—the enamel is very thin or almost absent, so it chips and wears easily. OUP Academic
5) Can teeth be saved?
Often yes—with varnish, desensitizers, sealants, crowns, and careful hygiene, many teeth are maintained. BioMed Central
6) Do we need heart checks?
Yes, many experts recommend baseline and periodic cardiology imaging, especially if there are symptoms or family history of dilation. PubMed+1
7) Are there specific medicines for VBS?
No FDA-approved disease-specific drugs. Medications are symptom-based (pain control, oral antiseptics, BP control if indicated). FDA Access Data+2FDA Access Data+2
8) Is losartan or a beta-blocker mandatory?
No. They’re not standard for everyone—only considered by cardiology if aortic dilation or hypertension is present, borrowing from heritable aortopathy practice. ahajournals.org
9) Can braces be used?
Yes, but carefully. Orthodontics should be sequenced with restorations and gentler forces. BioMed Central
10) Will my child’s height improve with hormones or supplements?
There’s no established hormone therapy for VBS height; growth should be monitored by pediatrics/endocrinology, with focus on function and comfort. OUP Academic
11) Are stem-cell treatments available?
Not approved for VBS. Consider research trials only with proper ethics oversight. OUP Academic
12) How often should we see the dentist?
Every 3–6 months for prevention and quick repairs. BioMed Central
13) What about sports?
Fine with custom mouthguards and spine-smart choices (e.g., swimming). BioMed Central
14) Can adults with VBS get full crowns or implants?
Yes, many need definitive crowns; implants may be considered case-by-case after growth with prosthodontist input. BioMed Central
15) Should relatives be tested?
Offer genetic counseling and targeted testing where appropriate. OUP Academic
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: November 01, 2025.
