Pyramidal molar–glaucoma–upper abnormal lip syndrome is an ultra-rare, inherited condition that affects teeth, the eyes, and the upper lip. It is also called Ackerman syndrome and pyramidal molars–abnormal upper lip syndrome. People who have it typically show:
unusual molar roots (pyramidal or fused, sometimes with large pulp chambers called taurodontism),
a full upper lip that does not have a Cupid’s bow and a thick/wide philtrum, and
glaucoma in childhood or youth (raised eye pressure that can damage the optic nerve).
Medical summaries note that only very few families have been described in the literature, and new detailed reports after the original 1973 description are sparse. That means today’s care focuses on treating each feature individually—dental, eye, and lip/craniofacial—using best practices from those fields. NCBIMalaCardsGenetic Diseases Info Center
This is an extremely rare inherited condition first described in one family. The main pattern is: (1) unusual roots of the back teeth (molars) that look like a single cone (“pyramidal” or fused roots; sometimes with taurodontism, which means a big pulp chamber and shortened roots), (2) an abnormal upper lip shape without a Cupid’s bow and a wide, thick philtrum, and (3) sometimes juvenile glaucoma, which is high eye pressure that can damage the optic nerve in childhood or adolescence. Toe- and finger-shape differences (clinodactyly or syndactyly) and sparse hair (hypotrichosis) were also noted in some affected people. Notably, there have been very few reports since the original description in 1973, so what we know is based on very limited cases. Wiley Online LibraryOrphaGenetic Diseases Info CenterNCBI
Why dentists and eye doctors care
Teeth: Pyramidal/fused roots and taurodontism can complicate root canal therapy and change how teeth respond to gum disease. These root shapes are thought to come from a developmental issue in a tooth structure called Hertwig’s epithelial root sheath (HERS), which fails to fold inward normally. PMC+1NatureLongdom
Eyes: Juvenile glaucoma needs early, careful testing (eye pressure, optic nerve check, angle exam, visual fields, OCT scans), because it can quietly reduce vision if not treated. AAFPGlaucoma Research FoundationCleveland Clinic
Other names
Ackerman syndrome (historical name from the original report) Wiley Online Library
Pyramidal molars–abnormal upper lip syndrome (Orphanet’s name) Orpha
Sometimes summarized descriptively as “pyramidal molar–glaucoma–abnormal upper lip” in rare-disease catalogs. Genetic Diseases Info CenterMalaCards
Other, more common “oculo-dento-facial” conditions such as Axenfeld–Rieger syndrome (PITX2/FOXC1) and oculo-dento-digital dysplasia (GJA1) can also combine eye and dental findings, and both can include glaucoma—this is why many care teams use genetic counseling and testing to rule in/out those look-alike conditions. MedlinePlusPMC+1Nature
Note: Some modern databases still list only the 1973 family and a handful of later case mentions; no consistent genetic locus has been confirmed. Genetic Diseases Info CenterOrpha
Types
Because only a few people have ever been documented, there are no official subtypes. Clinicians may think in phenotypic clusters:
Dental-dominant pattern: Striking molar-root anomalies (pyramidal/fused roots, taurodontism) with little or no eye disease. Wiley Online Library
Ocular-involving pattern: Above dental features plus juvenile glaucoma needing ophthalmic care. Wiley Online LibraryGenetic Diseases Info Center
Craniofacial-prominent pattern: Abnormal upper lip shape and broad/wide philtrum are the most visible features, with dental anomalies present and glaucoma absent or mild. Orpha
These are practical groupings to guide care, not proven biological subtypes.
Causes
Because the literature is very limited, the “causes” below combine what was reported with best-fit developmental explanations from dental and glaucoma science. When evidence comes from Ackerman’s description or dental biology, I note it.
Familial inheritance pattern: Reported across two generations in the 1973 family, indicating a heritable trait (likely dominant with variable expression). NCBI
Developmental error in HERS (root-sheath) invagination: Explains pyramidal/fused roots and taurodontism (failure or late folding makes roots short and pulp chamber large). PMCWikipedia
Abnormal epithelial–mesenchymal signaling in tooth roots: Disturbed cross-talk alters root shape and number (mechanistic extension of HERS biology). Nature
Taurodontism pathway changes: Same developmental pathway that drives taurodontism can co-occur with pyramidal roots. PMC
Ectodermal component involvement: Original cases mentioned hypotrichosis (sparse hair), pointing to ectodermal tissue involvement in parallel with teeth and lip. NCBI
Craniofacial patterning variation: Produces the abnormal upper lip (loss of Cupid’s bow) and broad philtrum during facial morphogenesis. Orpha
Anterior segment eye development variation: Can predispose to abnormal drainage angle and juvenile glaucoma. (General glaucoma pathfinding tests support this mechanism.) AAFP
Angle-outflow resistance increase: If the trabecular meshwork/angle develops unusually, eye pressure may rise earlier in life. eyerounds.org
Optic nerve vulnerability in youth: Children can sustain optic nerve damage from relatively moderate pressure elevations. NCBI
Genetic heterogeneity (unknown gene): No gene has been tied conclusively; the scarcity of cases limits mapping. Genetic Diseases Info Center
Variable expressivity: Different features (teeth, lip, eyes) vary in severity among relatives. NCBI
Clinodactyly/syndactyly linkage: Limb patterning pathways sometimes co-vary with craniofacial/dental development in multisystem syndromes (noted in index family). Wiley Online Library
Root canal morphology cascade: Once a tooth has taurodontism, endodontic anatomy often becomes complex, reinforcing functional problems. APRD
Periodontal biomechanics differences: Altered root form shifts how chewing forces travel, possibly affecting gum/periodontal outcomes. (Known for taurodont teeth.) APRD
HERS growth-direction timing error: Even small timing errors in HERS down-growth can produce conical single-rooted molars. Ingenta Connect
Root apical furcation shift: With taurodontism, the root branch point moves toward the tip, explaining X-ray appearances. ScienceDirect
Tooth-number associations: Pyramidal/taurodont roots sometimes accompany missing teeth patterns in case series, suggesting shared pathways. Longdom
Soft-tissue philtrum thickening: Likely reflects midline fusion/mesenchymal fill differences during embryonic face development. Orpha
Pigmentation at finger joints: Reported in a later case note; reflects cutaneous involvement in some individuals. journalijcar.org
Stochastic developmental variation: With ultra-rare syndromes, random developmental variation may modulate severity even within a family. NCBI
Symptoms and signs
Unusual molar roots (single, cone-shaped “pyramidal” or fused roots): Seen on dental X-rays; may make root canal treatment harder. Wiley Online Library
Taurodontism (big pulp chamber, short roots): May change tooth strength and treatment planning. PMC
Abnormal upper lip without Cupid’s bow: The top lip looks smooth in the middle; philtrum is broad and thick. Orpha
Wide, thick philtrum: The vertical groove area above the upper lip is wider than usual. Orpha
Juvenile glaucoma (sometimes): Eye pressure damages the optic nerve if not treated. Genetic Diseases Info Center
Reduced vision or visual field loss (if glaucoma progresses): Often starts with side vision. Glaucoma Research Foundation
Eye symptoms (not always present): Eye discomfort, halos around lights, or headaches with pressure spikes. Cleveland Clinic
Clinodactyly (curved finger): Mild curvature of a finger. Wiley Online Library
Syndactyly (webbed digits): Soft-tissue connection between fingers or toes, in some individuals. Wiley Online Library
Hypotrichosis (sparse hair) in some family members: Suggests ectodermal involvement. NCBI
Dental crowding or spacing issues: Root forms and tooth size/shape can affect alignment. APRD
Gum/periodontal challenges: Anatomy can change how plaque and forces affect gums. APRD
Tooth sensitivity or pulp symptoms: Big pulp chambers may be more reactive to deep cavities. PMC
Psychosocial impact: Noticeable lip shape or dental differences can affect self-esteem (general consequence of visible craniofacial differences).
Functional bite problems: Atypical tooth roots and shapes can contribute to malocclusion that needs orthodontics. APRD
Diagnostic tests
(Grouped as requested; short explanations in plain English.)
A) Physical exam
Craniofacial inspection: Look at upper lip contour (loss of Cupid’s bow) and width/thickness of philtrum. Helps recognize the pattern early. Orpha
Skin and hair check: Look for sparse hair and any skin changes (e.g., finger-joint pigmentation). NCBIjournalijcar.org
Hands/feet exam: Note clinodactyly or syndactyly to support a syndromic pattern. Wiley Online Library
Basic vision exam: Checks acuity and simple side-vision screening; if abnormal, move to full glaucoma testing. Cleveland Clinic
B) Manual tests (chair-side procedures)
Intraoral dental exam: Count teeth, check size/shape, look for caries and gum status; anomalies suggest imaging next. APRD
Pulp vitality testing (cold/EPT): Helps decide if a large-pulp tooth is alive; guides endodontic needs. PMC
Gonioscopy (eye-angle exam): A mirrored lens looks at the drainage angle to assess open/closed/narrow angles—key in glaucoma risk. eyerounds.orgVerywell Health
Applanation tonometry (e.g., Goldmann): Measures eye pressure accurately; high readings raise glaucoma concern. Glaucoma Center TX
C) Lab and pathological tests
No specific blood test confirms this syndrome today, but labs may be done to rule out look-alike conditions or to prepare for surgery (CBC, metabolic panel).
Genetic consultation/testing (research basis): No gene is proven for Ackerman syndrome; testing may still be useful to exclude other syndromes with overlapping features (e.g., Axenfeld-Rieger with PITX2/FOXC1). National Organization for Rare DisordersPMC
Histopathology (rarely needed): If a lip procedure is done for cosmetic/functional reasons, tissue is sometimes checked as standard practice (not diagnostic of the syndrome itself).
Dental microbiology (if infections): Helps plan treatment when deep caries or pulp infection exist (contextual, not syndrome-specific).
D) Electrodiagnostic tests
Visual evoked potential (VEP): Measures brain responses to visual stimuli; can show optic-pathway function if glaucoma is advanced or vision is unclear. (General glaucoma/optic neuropathy practice.) NCBI
Electroretinogram (ERG): Checks retinal function; useful if there’s concern about retinal disease masking as glaucoma. NCBI
Automated perimetry (standard visual field): Not “electrical,” but instrument-based functional testing of side vision; central in glaucoma monitoring. Glaucoma Research Foundation
Pupil light reflex recording (objective pupillography): Can document optic nerve/retinal pathway function changes alongside other tests (adjunctive).
E) Imaging tests
Dental panoramic radiograph (OPG): First-line image to show pyramidal/fused roots and taurodontism across jaws. PMC
Cone-beam CT (CBCT) / periapical radiographs: High-detail views of root shape and canals to guide dental work. APRD
Optical coherence tomography (OCT) of optic nerve/retina: Measures nerve fiber layer thickness to detect glaucoma damage early. Glaucoma Research Foundation
Anterior-segment OCT or ultrasound biomicroscopy: Visualizes the drainage angle/corneal-iris junction when gonioscopy is unclear. AAFP
Non-pharmacological treatments
Physiotherapy / mind-body / educational / gene-education” style supports
Low-vision education and tools (large-print, high-contrast apps, task lighting) to ease school/work.
Vision-safe study habits (regular breaks, steady posture, glare control).
Orofacial myofunctional therapy to improve lip seal, speech clarity, and chewing coordination.
Speech-language therapy if articulation is affected by lip shape/bite.
Occupational therapy for classroom/desk set-ups and daily-living work-arounds.
Hand/upper-limb physiotherapy if syndactyly surgery is done (range of motion, strength).
Jaw physiotherapy (gentle range, posture, parafunction control) during orthodontic phases.
Dental hygiene coaching: modified flossers, interdental brushes, powered brushes for tricky molars.
Professional fluoride varnish and strategic sealants on deep pits/fissures to prevent cavities in unusual molars. Cyprus Journal of Medical Sciences
Protective eyewear for sports and dusty environments to protect vulnerable eyes.
Sun/UV protection (hat, UV-blocking lenses) to reduce glare and photophobia.
Adherence coaching & family education (eye-drop routines, punctal occlusion technique).
Psychological support / peer groups to reduce appearance-related anxiety and build coping skills.
Genetic counseling to understand inheritance, reproductive options, and to distinguish from ARS/ODDD. MedlinePlusNature
Research literacy (“gene therapy education”) – there is no approved gene therapy for this syndrome; labs are exploring cell/gene strategies for glaucoma in animals. Families can learn about trials but should avoid unproven clinics. tvst.arvojournals.orgPNAS
Additional non-drug clinical measures
Regular glaucoma surveillance (IOP, OCT, fields) with a pediatric/young-adult glaucoma specialist. Angle surgery is the usual first-line procedure in childhood glaucoma if needed. EyeWikiPMC
Gonioscopy-guided care plans (decide when surgery is appropriate). EyeWiki
Orthodontic planning (early interceptive strategies to manage space/crowding).
Endodontic planning (specialist for taurodont/pyramidal roots—access, irrigation, obturation). PubMed
Cheiloplasty/lip revision when shape causes functional or psychosocial issues; timing is individualized.
School/college accommodations (extra time for visual tasks; seating to reduce glare).
Avoid steroid overuse unless medically necessary (steroids can raise eye pressure, especially in children). PubMedaaojournal.org
All-team care (ophthalmology, pediatric dentistry/endodontics, orthodontics, craniofacial surgery, genetics).
Nutrition and oral-health coaching (see “What to eat”).
Caregiver training (eye-drop instillation, dental hygiene for complex molars, appointment scheduling).
Drug treatments used to manage the glaucoma component
Important: exact choices and doses depend on age, weight, pressure level, and other illnesses. Children absorb eye drops systemically—punctal occlusion (press the inner corner for 1–2 minutes) reduces side effects. Angle surgery remains first-line for primary congenital glaucoma; drops support or bridge to surgery. PMCEyeWiki
Timolol (β-blocker, 0.25%–0.5%): 1 drop once or twice daily. First-line in many pediatric cases; watch for slow pulse and breathing issues. Healio Journals
Betaxolol (β1-selective): 1 drop twice daily; a bit gentler on lungs but still monitor.
Dorzolamide 2% (carbonic anhydrase inhibitor): 1 drop three times daily; often combined with a β-blocker. Drugs.com
Brinzolamide 1% (topical CAI): 1 drop three times daily; similar to dorzolamide.
Acetazolamide (oral CAI): short-term use during spikes or pre-op; about 8–30 mg/kg per day divided every 6–8 h (child-specific dosing, max usually ≤1 g/day). Side effects: tingling, fatigue, appetite change, rare kidney stones—take with food/water. Pediatric OncallMayo ClinicUnbound Medicine
Latanoprost (prostaglandin): 1 drop at bedtime; once-daily convenience.
Travoprost (prostaglandin): bedtime dosing; similar profile.
Bimatoprost (prostaglandin): bedtime; sometimes more redness or lash growth.
Netarsudil (ROCK inhibitor): 1 drop at bedtime; can help when other drops fail; watch for redness. Lippincott Journals
Pilocarpine (miotic): older option; may blur near vision; used selectively.
Apraclonidine (α2-agonist): short-term use around procedures; can lower IOP quickly; not a daily long-term choice in young kids. Glaucoma Today
Brimonidine (α2-agonist): avoid in infants (<2 y) due to risk of central nervous system depression; use very cautiously in older children only if a specialist advises. NCBIDrugs.com
Fixed dorzolamide–timolol: simplifies regimen to two actives in one bottle; typical dosing twice daily with the combo. FDA Access Data
Hyperosmotics (e.g., IV mannitol) for emergency pressure spikes while preparing surgery.
Post-op mitomycin-C (antimetabolite used by the surgeon during trabeculectomy) to improve surgical success when needed. EyeWiki
Why not “steroid eye drops” for this condition? Steroids are not used to treat glaucoma; in fact, topical or systemic steroids can raise eye pressure, especially in children. If a child needs steroids for another disease, ophthalmology follow-up for IOP is important. PubMedPMC
Dietary / molecular supports
These do not treat glaucoma directly. They support oral health or general eye wellness. Discuss any supplement with your clinician, especially for children.
Fluoride toothpaste/varnish (pea-sized 1000–1500 ppm twice daily; professional varnish 2–4×/year) to harden enamel on complex molars. Cyprus Journal of Medical Sciences
Xylitol chewing gum/lozenges (~6–10 g/day in divided use) to reduce cavity-causing bacteria.
Casein phosphopeptide–amorphous calcium phosphate (CPP-ACP) cream at night to remineralize early enamel changes.
Calcium (age-appropriate RDA) for tooth/bone health.
Vitamin D (600–1000 IU/day age-dependent) supports mineralization.
Omega-3 fatty acids (~1 g/day in older teens/adults) for general ocular surface comfort.
Coenzyme Q10 (100–200 mg/day in older teens/adults): studied as a possible neuroprotective adjunct in glaucoma—evidence is suggestive but not definitive. PubMedNature
Citicoline (500–1000 mg/day in older teens/adults): proposed neuroprotective role; still investigational for routine glaucoma care. FrontiersWiley Online Library
Lutein/zeaxanthin (10 mg/2 mg) for general retinal antioxidant support (best evidence is for macular degeneration, not glaucoma).
Green-tea polyphenols (dietary) as general antioxidants; avoid high-dose supplements in kids.
Regenerative / stem-cell” research directions
There are no approved “immunity booster” or stem-cell drugs for this syndrome or for pediatric glaucoma. However, lab and early animal studies are exploring ways to protect or restore eye tissues:
iPSC-derived trabecular meshwork (TM) cells transplanted into glaucoma models to improve outflow and lower pressure (animal/organ studies). PNASNature
Mesenchymal stem cells (MSCs) and MSC-derived exosomes as potential neuroprotectors for retinal ganglion cells (preclinical; mixed early signals). PMC+1
Magnetically guided stem-cell delivery to TM (mouse study) showing prolonged IOP lowering—not yet in people. eLife
TM regeneration programs (university research groups testing TM cell replacement concepts). Markus H. Kuehn, PhD
Limbal stem-cell transplantation is a real, established surgery—but it treats ocular surface stem-cell deficiency, not glaucoma; listed here to avoid confusion. AAOJAMA Network
Neuroprotective adjuncts (e.g., CoQ10 or citicoline) are being studied alongside pressure-lowering care; still adjunctive/experimental. MDPIWiley Online Library
Surgeries
Goniotomy – the surgeon opens the eye’s clogged drainage tissue from inside to help fluid leave and lower pressure. Often first-line for congenital/childhood glaucoma when the cornea is clear. The Open Ophthalmology JournalPMC
Trabeculotomy (ab externo) – opens the drainage canal from the outside; useful if the cornea is not clear enough for goniotomy. eyerounds.org
Trabeculectomy (with mitomycin-C) – creates a new drainage pathway when angle surgery is not enough. EyeWiki
Glaucoma drainage implants (Ahmed/Baerveldt) – tiny tubes that drain fluid to a plate under the eye’s surface when other surgeries have failed. EyeWiki
Lip revision/cheiloplasty – reshapes an upper lip without a Cupid’s bow when function or appearance is affected; timing and technique are individualized by craniofacial surgeons. (For reference on timing in cleft/lip disorders in general craniofacial care, see major centers’ guidance.) Cleveland ClinicChildren’s Hospital of Philadelphia
Prevention tips
You cannot prevent the genetic syndrome itself, but you can prevent avoidable complications.
Regular eye checks from infancy/childhood in at-risk families.
Strict dental prevention (fluoride/sealants, 3–6-month cleanings). Cyprus Journal of Medical Sciences
Protect eyes during sports/work (goggles).
Avoid unnecessary steroids (topical, oral, inhaled) and monitor IOP closely if steroids are needed for other illnesses. PubMedPMC
Teach punctal occlusion after eye drops to reduce side effects in kids.
Healthy oral diet: water first, limit sugary snacks/drinks to mealtimes.
Sun/UV and glare control to reduce photophobia and squinting.
Consistent bedtime if using night-time glaucoma drops (prostaglandins).
Genetic counseling for family planning and to discuss testing/registries. NCBI
When to see a doctor now
Eye red flags: sudden eye pain, vomiting with eye pain, halos around lights, eyes that look unusually large/watery in an infant, or any drop in vision. These can signal high pressure and need urgent eye care. Angle surgery is often the best first treatment in children if pressure is high. PMC
Dental red flags: toothache, swelling, sensitivity to hot/cold, or broken teeth—pyramidal/taurodont roots need specialist planning. PubMed
Lip/face red flags: feeding difficulty, speech concern, or distress about appearance—craniofacial and speech teams can help.
What to eat (and what to avoid)
Eat more of:
Water, milk, and unsweetened dairy/fortified alternatives (calcium + vitamin D).
Crunchy, high-fiber fruits/vegetables (help saliva flow, natural tooth cleaning).
Cheese or sugar-free yogurt after meals (buffers acids).
Foods rich in omega-3s (fish, flax) for general eye comfort.
Limit/avoid:
Sugary drinks/juices, frequent snack-sipping (raises cavity risk).
Sticky sweets (cling to grooves on complex molars).
Smoking/vaping exposure in the home (worsens eye and gum health).
“Herbal eye cures” without evidence—can delay proper glaucoma care.
FAQs
1) Is this the same as Axenfeld–Rieger syndrome?
No. They can look similar (eye + dental), but they are different conditions. Genetic testing helps tell them apart. MedlinePlus
2) Is it always inherited?
Reported families suggest an inherited pattern (often recessive), but data are limited because so few families are known. NCBI
3) Can children outgrow glaucoma?
No. Glaucoma needs lifelong monitoring. Pressure control and optic-nerve protection are the goals. Angle surgery is often first-line in kids. PMC
4) Are there warning signs of high pressure?
Halos, light sensitivity, watery/red eyes, enlarged corneas in infants, or vision drop—seek care urgently.
5) Which eye drop is safest for young children?
Specialists often start with timolol (low concentration) or a topical carbonic anhydrase inhibitor; exact choice is individualized. Brimonidine is avoided in infants. Healio JournalsNCBI
6) Do vitamins fix glaucoma?
No. Supplements can support general eye or dental health, but pressure-lowering and/or surgery protect the optic nerve. EyeWiki
7) Is stem-cell therapy available?
Not yet for routine glaucoma care. It’s in animal/early research stages. PNASPMC
8) Can the upper lip be reshaped?
Yes. Craniofacial surgeons can plan lip revision if function or appearance calls for it.
9) Are unusual molar roots a big problem?
They mostly change how dentists plan fillings, root canals, or extractions. With specialist care, they can be managed well. PMC
10) Will braces be needed?
Often helpful when spacing/crowding or bite issues occur.
11) Do steroids help the eyes here?
No—steroids can raise eye pressure; use only when a doctor says they’re necessary for other problems, with IOP monitoring. PubMed
12) How often are eye checks needed?
Typically every 3–6 months in growing children, more often if pressure is unstable.
13) Can school help?
Yes—seat near the board, allow large print/high contrast, extra test time, and regular breaks.
14) Is dental anesthesia risk higher?
Not from the syndrome itself, but complex roots mean longer procedures—planning with pediatric dental specialists helps.
15) Where can I read an authoritative overview?
See rare-disease catalogs that list Ackerman syndrome under its synonyms and note its hallmark features and rarity. Genetic Diseases Info CenterMalaCards
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: September 02, 2025.
