Cleidocranial Dysostosis

Cleidocranial dysostosis (often called cleidocranial dysplasia) is a rare genetic condition that mainly affects how the bones and teeth grow and harden. In this condition, some bones—especially the collarbones (clavicles) and skull bones—do not form or close in the usual way, so they can stay soft, thin, or partly missing. People with this condition usually have short height, a large head with a wide forehead, delayed closing of the “soft spots” on the skull, and dental problems such as extra teeth and teeth that do not come out on time. Brain development is usually normal, and most people can live a normal life span with good medical and dental care.

Cleidocranial dysostosis is almost always caused by a change (mutation) in a gene called RUNX2. This gene helps control how bone-forming cells (osteoblasts) grow and work. When RUNX2 does not work properly, bone tissue does not harden normally, so some bones stay weak, thin, or incompletely formed.

Cleidocranial dysostosis (also called cleidocranial dysplasia) is a genetic bone and teeth condition. It mainly affects the skull (head bones), collarbones (clavicles), and teeth. Many people have soft or open skull seams for longer than usual, small or missing collarbones (so shoulders can move inward a lot), and delayed teeth eruption with extra teeth or teeth stuck inside the jaw. It is most often linked to changes in the RUNX2 gene. []

This condition is usually lifelong, but many people do very well with planned dental care, bone health support, and follow-up. There is no single “cure pill” for the gene change, so treatment focuses on (1) fixing or preventing dental and jaw problems, (2) supporting bone strength and posture, and (3) protecting hearing and breathing if needed. A team approach (dentist/orthodontist + oral surgeon + doctor) is often best. []

Some people with cleidocranial dysostosis can have low bone mineral density (osteopenia/osteoporosis) and fractures, so bone health checks (like DXA scans) may be advised in some cases, especially if there are fractures or risk factors. In children and teens, bone density results must be read carefully because bones are still growing. [] []

The condition is usually inherited in an “autosomal dominant” way. This means that if a parent has the mutation, each child has a 50% chance to get the same gene change and develop the condition, although the signs can be mild or severe even inside the same family.

Other names

Cleidocranial dysostosis is known by several other names in medical books:

• Cleidocranial dysplasia – this is now the most common name and means abnormal formation of the collarbones and skull bones.

• Scheuthauer-Marie-Sainton syndrome / Marie-Sainton syndrome – older names from doctors who first described families with this condition.

• Mutational dysostosis – an older term that simply means “abnormal bone growth due to a mutation.”

Types (clinical spectrum)

Doctors now talk about a “cleidocranial dysplasia spectrum disorder”, because the condition can be very mild or very obvious.

1. Classic cleidocranial dysostosis
   This is the typical form. People have the “triad” of delayed skull suture closure, under-developed or missing collarbones, and clear dental problems (extra teeth, delayed tooth eruption).

2. Mild cleidocranial dysostosis
   In this type, bone changes are present but not very strong. Clavicles may be only slightly short, and the skull may close later than normal but not stay open for life. Dental problems can still be important. Sometimes this type is only found after X-rays are done for another reason.

3. Isolated dental form
   Some people have RUNX2 mutations but mainly show dental problems such as many extra teeth, delayed eruption of permanent teeth, and crowded jaws, without clear changes in the collarbones or other bones. This is often first seen by a dentist.

Causes

All known direct causes involve problems with the RUNX2 gene or the area of chromosome 6 where this gene sits. Below are 20 ways or factors that explain how and why the condition happens or varies.

1. Heterozygous RUNX2 mutation
   The main cause is a single faulty copy (heterozygous mutation) in one RUNX2 gene. One working and one non-working copy is enough to disturb bone formation and cause the disorder.

2. Loss-of-function (truncating) mutations
   Some changes cut the RUNX2 protein short (nonsense or frameshift mutations). The shortened protein cannot guide bone cell development well, leading to very typical cleidocranial features.

3. Missense mutations in key domains
   Other changes swap one amino acid for another (missense mutation) in important parts of RUNX2. Even small changes in the DNA-binding or activation domains can greatly weaken the protein’s function and cause milder or variable disease.

4. RUNX2 haploinsufficiency
   In many patients, having only one functional RUNX2 gene (instead of two) reduces the total level of the protein below a safe threshold. This “haploinsufficiency” explains why almost all bones are slightly under-ossified.

5. Microdeletions including the RUNX2 region
   Some people have small missing pieces of chromosome 6p21 that remove the entire RUNX2 gene or its nearby control regions. These chromosomal deletions act like a large mutation and produce the same clinical picture.

6. Autosomal dominant inheritance in families
   In many families, the RUNX2 mutation is passed from one affected parent to a child in a clear autosomal dominant pattern. This explains why several generations can have similar facial, dental, and skeletal signs.

7. De novo (new) mutations
   In some children, neither parent has the condition. The mutation appears for the first time in the egg, sperm, or very early embryo. These “de novo” changes still affect every cell of the child and cause the usual features.

8. Variable expressivity of the same mutation
   Even within one family with the same RUNX2 mutation, one person may have almost no symptoms and another may have severe skeletal changes. This “variable expressivity” is a cause of the wide range of clinical pictures in the spectrum.

9. Modifier genes in bone pathways
   Other genes that also control bone growth and dental development can modify how strongly a RUNX2 mutation shows itself. Differences in these modifier genes can cause milder or more severe disease in different people.

10. Epigenetic changes around RUNX2
    Changes in DNA methylation and chromatin around the RUNX2 gene can influence how much RUNX2 is produced from the remaining normal copy. Lower expression can worsen bone problems even when the DNA sequence change is the same.

11. Disruption of osteoblast differentiation
    RUNX2 is a master switch for turning immature cells into osteoblasts. When RUNX2 is weak, fewer osteoblasts mature, so bone matrix is laid down slowly and remains poorly mineralized, especially in skull, clavicles, and pelvis.

12. Abnormal endochondral bone formation
    In addition to direct (intramembranous) bone formation in the skull and clavicle, RUNX2 helps regulate bone that first forms as cartilage and then hardens. Disturbed endochondral ossification contributes to short stature and limb changes.

13. Abnormal intramembranous ossification
    Skull vault and clavicles mostly form directly from connective tissue without a cartilage stage. RUNX2 mutations disturb this intramembranous process, so these bones stay soft, wide-open, or partly absent.

14. Disturbed dental follicle and tooth eruption
    RUNX2 is active in tissues around developing teeth. When it is weak, the bone around teeth and the dental follicle do not remodel properly, so extra teeth form and normal teeth fail to erupt or erupt very late.

15. Reduced bone mineral density
    Many people with cleidocranial dysostosis have lower bone density. Poor mineralization of bone matrix due to impaired osteoblast function increases fracture risk and contributes to the skeletal findings.

16. Mechanical effects of abnormal skeletal shape
    Abnormal shape of chest, pelvis, and spine changes weight bearing and muscle pull on bones. Over time this can worsen deformities, cause scoliosis, and lead to functional problems like fatigue or back pain.

17. Developmental delay of cranial sutures
    RUNX2 helps sutures close at the proper time. When its function is reduced, sutures close very late or remain open, leading to large fontanelles and Wormian bones. This developmental delay is one of the core causes of the skull signs.

18. Pelvic bone hypoplasia
    The pelvis often remains small and under-developed because of the same problems in bone formation. This may cause hip deformities (coxa vara) and difficulties during childbirth in affected women.

19. Environmental and nutritional modifiers
    While RUNX2 mutations are the main cause, factors like poor nutrition, low vitamin D, or lack of physical activity can further weaken bones and make symptoms more obvious, even though they are not primary causes on their own.

20. Under-diagnosis and late recognition
    Some people have mild bone and dental signs that are not recognized until adulthood. The disease mechanism is the same, but late recognition can cause long-term untreated dental and skeletal problems, which then appear as part of the “cause” of disability.

Symptoms

1. Short stature
   Many children and adults are shorter than others in their family or community. This happens because overall bone growth, especially in the spine and long bones, is mildly reduced.

2. Large head and broad forehead
   The skull bones grow outward but close late, so the head can look large with a wide, prominent forehead (frontal bossing). This feature is very common and often noticeable in childhood.

3. Delayed closure of fontanelles and skull sutures
   The “soft spots” on top of the head and the seams between skull bones may stay open for many years or for life. This can make the skull feel soft or uneven when touched.

4. Under-developed or absent collarbones
   Collar bones may be short, thin, or missing. Because of this, the shoulders can often be brought close together or even touch in front of the chest, which most people cannot do.

5. Narrow, drooping shoulders and chest shape changes
   The shoulders may slope down and the upper chest can look narrow or small. This is due to the lack of strong clavicles and changes in the ribs and upper spine.

6. Multiple extra teeth (supernumerary teeth)
   Many people have extra permanent teeth that develop in the jaws. These teeth often stay inside the bone and push normal teeth out of place, causing very crowded or irregular teeth.

7. Delayed eruption of permanent teeth
   Baby teeth may stay in the mouth for a long time, while adult teeth come in very late or do not erupt without surgery and orthodontic help.

8. Wide nasal bridge and midface flattening
   The middle part of the face may look flat, with a wide nasal bridge and sometimes a small upper jaw. This facial pattern is typical for the condition.

9. Wormian bones and irregular skull shape
   Small extra bone islands (Wormian bones) can form within the skull sutures. Together with delayed closure, they can make the skull shape irregular on X-ray.

10. Pelvic and hip deformities
    The pelvis may be small with wide pubic bones and hip deformity such as coxa vara (bent upper femur). This can cause a waddling walk or hip pain in some people.

11. Spinal curvature (scoliosis or kyphosis)
    The spine can develop abnormal curves, including side-to-side (scoliosis) or forward rounding (kyphosis). These curves may cause back pain or cosmetic concerns.

12. Hand and finger abnormalities
    The end bones of the fingers (distal phalanges) may be short or pointed, and hands can look broad with short fingers. These changes are often seen on X-ray more clearly than by eye.

13. Easy bone fractures
    Because bone density can be low, some people have fractures after minor accidents. Repeated fractures may be the first reason a doctor checks for a bone disorder.

14. Hearing problems (in some patients)
    Recurrent ear infections, middle ear fluid, or abnormal small ear bones can cause hearing loss in some people, although this is not present in everyone.

15. Normal intelligence but psychosocial challenges
    Thinking and learning ability are usually normal. However, visible bone and dental differences can cause self-confidence problems, bullying, or anxiety, so emotional and social support are important.

Diagnostic tests

Doctors use a mix of clinical examination, special manual checks, laboratory tests, and imaging to diagnose cleidocranial dysostosis and to plan treatment.

Physical examination tests

1. General physical inspection
   The doctor looks at height, head size, shoulder shape, chest width, spine, hands, hips, and gait. The typical combination of short stature, broad forehead, narrow shoulders, and dental problems can strongly suggest the diagnosis.

2. Shoulder approximation test
   The doctor asks the person to bring both shoulders together in front of the chest. In cleidocranial dysostosis, the person may be able to touch or cross the shoulders because the clavicles are absent or very short. This is a classic clinical sign.

3. Head and skull palpation
   The doctor gently feels the skull for open soft spots, wide sutures, bumps, and irregular edges. Persistently open fontanelles and wide sutures support the diagnosis.

4. Facial and dental inspection
   A careful look at the face and mouth checked for midface flattening, wide nasal bridge, crowded or missing teeth, and retained baby teeth. These are key clues and often lead to dental X-rays.

5. Spine and gait examination
   The doctor watches how the person stands and walks, looking for scoliosis, kyphosis, or hip problems such as limping. These findings help judge severity and need for orthopedic imaging.

Manual tests

6. Range-of-motion testing of shoulders
   The doctor moves the shoulders in different directions or asks the patient to move them. Excessive range, especially bringing shoulders together deeply in front, supports clavicle hypoplasia or absence.

7. Manual hip assessment (Trendelenburg and stability checks)
   By standing on one leg or by manual stress tests, the doctor checks for hip weakness or instability due to coxa vara or pelvic hypoplasia. These findings guide need for hip X-rays.

8. Spinal flexibility and pain testing
   The doctor asks the person to bend forward, sideways, and backward while watching spinal curves and asking about pain. Stiff or painful curves may need further imaging and orthopedic follow-up.

9. Jaw opening and bite assessment
   Manual checking of how wide the mouth opens and how the teeth meet (occlusion) helps to plan orthodontic and surgical dental treatment. Limited opening or very irregular bite may require specialized imaging and surgery planning.

Laboratory and pathological tests

10. Genetic testing for RUNX2 mutations
    A blood or saliva sample is used to read the RUNX2 gene. Finding a disease-causing mutation confirms the diagnosis and allows testing of family members when needed.

11. Chromosomal microarray or targeted deletion analysis
    If gene sequencing is normal but the clinical picture is typical, tests can look for small deletions of the RUNX2 region on chromosome 6p21. These tests detect copy-number changes missed by simple sequencing.

12. Bone turnover markers
    Blood tests such as alkaline phosphatase and other bone markers may be checked to understand overall bone formation and turnover. They are not specific but can help in general bone health assessment.

13. Basic metabolic and endocrine panel
    Tests of calcium, phosphate, vitamin D, thyroid function, and kidney function help rule out other bone disorders that might exist together with cleidocranial dysostosis or mimic some of its features.

14. Pathological examination of extracted bone or teeth (if done)
    When teeth or bone fragments are removed for treatment, they can be examined under a microscope. Findings may show abnormal bone structure and tooth development that match the diagnosis, though this is not always needed.

Electrodiagnostic tests

15. Nerve conduction studies for suspected nerve compression
    In rare cases, abnormal clavicles or spine curves can compress nerves, causing numbness or weakness in the arms. Nerve conduction studies and electromyography (EMG) can check how well the nerves and muscles work and help plan surgery if compression is severe.

16. Polysomnography (sleep study) when sleep-disordered breathing is suspected
    If facial and chest shape cause snoring, pauses in breathing, or poor sleep, a sleep study with multiple sensors (including brain waves, airflow, and oxygen levels) can detect obstructive sleep apnea and guide treatment.

17. Audiometry and related electrophysiologic hearing tests
    Hearing tests, including pure-tone audiometry and sometimes electro-based tests like auditory brainstem responses, are used when ear problems or hearing loss are suspected, to see if middle-ear or inner-ear function is affected.

Imaging tests

18. Plain X-rays of skull, chest, spine, pelvis, and limbs
    X-rays are the main imaging tool. They show hypoplastic or absent clavicles, wide open sutures, Wormian bones, pelvic changes, short distal phalanges, and spinal deformities. Together with clinical signs, these films usually make the diagnosis clear.

19. Dental panoramic X-ray (orthopantomogram)
    A panoramic dental film shows extra teeth, unerupted teeth, odd root shapes, and crowded jaws. This is essential for planning extractions, exposure of teeth, and orthodontic treatment.

20. CT scan or 3-D CT of skull and chest
    CT scans can show fine details of skull vault, cranial sutures, clavicles, and thorax in three dimensions. They are useful for surgical planning in complex craniofacial or orthopedic cases, but are used carefully to limit radiation exposure.

21. Bone density scan (DXA)
    A dual-energy X-ray absorptiometry (DXA) scan measures bone mineral density. Low values confirm osteopenia or osteoporosis and help guide advice on exercise, calcium, vitamin D, and fracture prevention.

22. Focused MRI (for complications when indicated)
    MRI is not needed for diagnosis of cleidocranial dysostosis itself, but it can be used to look at the spine, brain, or joints if complications such as spinal cord compression, hip problems, or nerve compression are suspected.

Non-pharmacological treatments (therapies and others)

1. Early diagnosis + care plan: A clear plan made early helps prevent “domino problems” (stuck teeth, bite problems, jaw strain). Purpose: start care before complications grow. Mechanism: regular checks + timed steps reduce long delays and harder surgery later. []

2. Regular dental imaging schedule: Panoramic X-ray/CBCT (when needed) can track extra teeth and impacted teeth. Purpose: safe planning. Mechanism: shows tooth position so extractions and traction can be timed correctly. []

3. Staged removal of extra/retained teeth (timed): Removing baby teeth and supernumerary teeth at planned times can help permanent teeth erupt. Purpose: make space and reduce blockage. Mechanism: removes physical barriers so eruption and traction work better. []

4. Surgical exposure + orthodontic traction (pulling impacted teeth slowly): A dentist can expose an impacted tooth and an orthodontist can gently pull it into place. Purpose: restore a functional smile and bite. Mechanism: steady controlled force guides the tooth into the arch. []

5. Braces/aligners for bite correction: Orthodontics can correct crowding, spacing, and bite imbalance. Purpose: improve chewing and jaw comfort. Mechanism: gradual pressure moves teeth and aligns the bite over time. []

6. Periodontal (gum) care program: Professional cleaning and gum care helps protect teeth used for traction or implants. Purpose: prevent gum disease. Mechanism: lowers plaque/inflammation so bone and gums stay healthier around teeth. []

7. Speech assessment and therapy (if needed): Some people develop speech issues from dental/jaw differences. Purpose: clearer speech and confidence. Mechanism: targeted practice improves tongue placement and sound production. []

8. Hearing checks (audiology) and ENT follow-up: Ear infections or fluid can affect hearing in some people. Purpose: protect hearing and learning. Mechanism: testing finds problems early so simple treatments (like tubes) can help. []

9. Breathing and sleep screening: Jaw shape and dental crowding can affect airway in some cases. Purpose: reduce snoring/sleep issues. Mechanism: sleep evaluation finds treatable airway narrowing early. []

10. Physical therapy for posture and shoulder control: Shoulder hyper-mobility and posture strain can cause pain. Purpose: reduce pain and improve function. Mechanism: strengthening and posture training stabilizes muscles around the shoulder and spine. []

11. Core strengthening + scoliosis monitoring: Spine curve can happen in some people. Purpose: protect the back. Mechanism: monitoring finds early curve changes; exercises support balance and muscle endurance. []

12. Safe activity and fall-prevention habits: Bone fragility risk (in some cases) means injuries matter. Purpose: avoid fractures. Mechanism: safer sports choices, protective gear, and home safety reduce trauma. []

13. Nutrition plan for bone building: Food choices that support calcium, vitamin D, and protein help bones. Purpose: support bone density. Mechanism: gives building blocks for bone mineral and collagen structure. [] []

14. Sunlight habits (safe exposure) for vitamin D: Vitamin D supports calcium absorption. Purpose: maintain vitamin D level. Mechanism: improves calcium handling and bone mineralization when levels are adequate. []

15. DXA scan + fracture history review (when appropriate): Bone density checks can be useful if fractures happen or risk is high. Purpose: detect low bone density. Mechanism: identifies bone weakness so prevention and treatment can be targeted. []

16. Dental sealants and fluoride plan (prevention): Protecting enamel matters when dental treatment is long. Purpose: prevent cavities. Mechanism: sealants/fluoride reduce acid damage and strengthen enamel. []

17. Psychological support / counseling: Long dental care can be stressful and can affect self-image. Purpose: reduce anxiety and improve coping. Mechanism: skills for stress control improve adherence to care and wellbeing. []

18. Genetic counseling for family planning: This condition often follows an autosomal dominant pattern. Purpose: understand inheritance and options. Mechanism: explains risk to relatives and future children in clear terms. []

19. School/work accommodations during major dental phases: Multiple procedures may need rest days. Purpose: protect recovery and performance. Mechanism: planned scheduling reduces missed work and supports healing routines. []

20. Planned long-term follow-up (life-stage based): Needs change from childhood → teen → adult (teeth, jaw, bone density). Purpose: keep outcomes stable. Mechanism: periodic reassessment updates the plan before problems return. []

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Drug treatments (supportive; not a cure for the gene change)

Important: These medicines are commonly used to manage pain, infections, dental procedures, or bone density issues in some patients, but they do not “fix” the RUNX2 gene. Doses depend on age, weight, kidney/liver health, and the exact problem, so a clinician must personalize them. []

1. Acetaminophen (Tylenol) — Class: analgesic/antipyretic. Typical dosage: label-directed; avoid taking more than directed. Time: short-term for pain/fever (often after dental work). Purpose: pain control. Mechanism: acts in the central nervous system to reduce pain signaling. Side effects: liver injury risk with overdose or mixing with other acetaminophen products. []

2. Ibuprofen (Advil and generics) — Class: NSAID. Typical dosage: label-directed; use smallest effective dose. Time: short courses for pain/swelling. Purpose: reduce pain and inflammation after procedures. Mechanism: COX inhibition lowers prostaglandins. Side effects: stomach irritation/bleeding risk, kidney strain in dehydration, and other NSAID warnings. []

3. Naproxen sodium — Class: NSAID. Typical dosage: label-directed. Time: short-term pain and inflammation (not for everyone). Purpose: longer-lasting anti-inflammatory pain relief. Mechanism: COX inhibition lowers inflammatory mediators. Side effects: stomach bleeding risk and cardiovascular warnings common to NSAIDs. []

4. Tramadol (only if clinician decides it is necessary) — Class: opioid analgesic with additional neurotransmitter effects. Typical dosage: individualized; careful titration is important. Time: very short-term for severe pain when other options fail. Purpose: stronger pain relief. Mechanism: mu-opioid receptor activity + norepinephrine/serotonin reuptake effects. Side effects: sedation, dependence risk, respiratory depression risk, and seizure risk. []

5. Amoxicillin (AMOXIL and generics) — Class: penicillin antibiotic. Typical dosage: depends on infection type and age/weight. Time: for confirmed/suspected bacterial dental infections, or as directed for certain procedures. Purpose: treat bacterial infection. Mechanism: blocks bacterial cell wall building. Side effects: allergy/rash, diarrhea; antibiotic use can trigger serious bowel infection in some cases. []

6. Cephalexin (KEFLEX and generics) — Class: cephalosporin antibiotic. Typical dosage: individualized. Time: bacterial skin/soft tissue or dental infections when appropriate. Purpose: infection control. Mechanism: inhibits bacterial cell wall synthesis. Side effects: allergy (especially if severe penicillin allergy), stomach upset, diarrhea. []

7. Clindamycin (CLEOCIN and generics) — Class: lincosamide antibiotic. Typical dosage: individualized. Time: used when certain allergies exist or specific mouth bacteria are suspected. Purpose: treat dental/soft tissue infections. Mechanism: blocks bacterial protein synthesis. Side effects: higher risk of C. difficile–associated diarrhea; use only when truly needed. []

8. Chlorhexidine 0.12% oral rinse (Peridex/Periogard) — Class: antiseptic mouth rinse. Typical dosage: as directed by dentist (often twice daily rinsing). Time: short periods during gum inflammation or after dental work. Purpose: reduce gum bleeding and bacteria. Mechanism: antiseptic action lowers oral bacterial load. Side effects: tooth staining, taste changes, mouth irritation. []

9. Lidocaine injection (Xylocaine) — Class: local anesthetic. Dosage/time: dentist/anesthetist controlled during procedures. Purpose: numb pain for dental surgery or nerve blocks. Mechanism: blocks sodium channels so nerves cannot send pain signals. Side effects: dizziness, low blood pressure, and serious heart/nerve effects if mis-dosed (medical use only). []

10. Midazolam (procedural sedation, clinician-controlled) — Class: benzodiazepine sedative. Dosage/time: individualized; used right before/during procedures. Purpose: anxiety relief, sedation, and amnesia during dental surgery. Mechanism: enhances GABA activity in the brain. Side effects: drowsiness, breathing suppression when combined with other sedatives; needs monitoring. []

11. Ondansetron (Zofran) — Class: 5-HT3 anti-nausea drug. Typical dosage: depends on age and reason. Time: before/after anesthesia or strong pain medicine if nausea occurs. Purpose: prevent nausea/vomiting. Mechanism: blocks serotonin receptors that trigger vomiting reflex. Side effects: constipation, headache; rare rhythm issues in some patients. []

12. Cyclobenzaprine (Flexeril/Amrix) — Class: muscle relaxant. Typical dosage: clinician-directed. Time: short-term for muscle spasm (for example neck/jaw strain). Purpose: reduce muscle tightness. Mechanism: acts in the central nervous system to lower muscle spasm signals. Side effects: drowsiness, dry mouth, dizziness; avoid risky activities when sedated. []

13. Alendronate (Fosamax) — Class: bisphosphonate. Typical dosage: weekly or daily regimens exist; clinician decides. Time: months to years in osteoporosis plans (not routine for every CCD patient). Purpose: reduce bone loss and fracture risk. Mechanism: inhibits bone resorption by osteoclasts. Side effects: esophagus irritation, jaw bone problems are rare but important around dental surgery. []

14. Zoledronic acid (Reclast/Zometa) — Class: IV bisphosphonate. Dosage/time: clinician-controlled infusion schedules (often yearly in osteoporosis). Purpose: strengthen bone and reduce fractures in approved settings. Mechanism: reduces osteoclast activity strongly. Side effects: flu-like symptoms after infusion, low calcium risk, kidney monitoring needed. []

15. Teriparatide (Forteo) — Class: anabolic bone agent (PTH analog). Typical dosage: daily injection in approved use. Time: limited course (clinician-guided). Purpose: build new bone in severe osteoporosis settings. Mechanism: stimulates osteoblast activity when given intermittently. Side effects: nausea, dizziness, calcium changes; not for everyone. []

16. Denosumab (Prolia) — Class: RANKL inhibitor monoclonal antibody. Typical dosage: injection every 6 months (clinician-given). Time: long-term plan with careful follow-up. Purpose: reduce bone breakdown. Mechanism: blocks RANKL, lowering osteoclast formation. Side effects: low calcium risk (especially kidney disease), skin infections, jaw bone risks in rare cases. []

17. Romosozumab (Evenity) — Class: sclerostin inhibitor monoclonal antibody. Typical dosage/time: clinician-directed monthly injections for a limited course. Purpose: increase bone formation and lower fractures in high-risk osteoporosis settings. Mechanism: blocks sclerostin to increase bone building signals. Side effects: injection reactions; cardiovascular warning exists for some patients. []

18. Somatropin (growth hormone; only if there is a proven medical indication) — Class: human growth hormone. Dosage/time: individualized and monitored. Purpose: treat diagnosed growth hormone deficiency or approved growth conditions. Mechanism: increases IGF-1 signaling which supports growth and tissue building. Side effects: swelling, joint pain, sugar changes; needs specialist follow-up. []

19. Calcium carbonate (medical-grade calcium) — Class: mineral supplement/antacid (also used as calcium source). Typical dosage: depends on diet and age; clinician/dietitian can set a target. Time: daily support when intake is low. Purpose: provide calcium for bone mineral. Mechanism: adds elemental calcium for bone remodeling needs. Side effects: constipation, kidney stone risk in some people if excessive. []

20. Alendronate + Vitamin D3 (Fosamax Plus D) — Class: bisphosphonate + vitamin D. Dosage/time: clinician-directed weekly schedule in approved osteoporosis use. Purpose: reduce bone loss and support vitamin D intake. Mechanism: lowers osteoclast activity and provides D3 which supports calcium absorption. Side effects: GI irritation and vitamin D excess if misused. []

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Dietary molecular supplements (supportive)

Note: Supplements are “helpers,” not a cure. If you are a teen, pregnant, have kidney disease, or take other medicines, doses must be confirmed by a clinician to avoid harm. []

1. Calcium — Dosage: depends on age and diet. Function: bone mineral building. Mechanism: supplies calcium ions used to harden bone matrix. Safety: too much can cause constipation and may raise kidney stone risk in some people. []

2. Vitamin D3 (cholecalciferol) — Dosage: individualized; check blood levels if advised. Function: helps body absorb calcium. Mechanism: improves intestinal calcium absorption and supports bone mineralization. Safety: excess can cause high calcium problems. []

3. Vitamin K (often K2 in supplements) — Dosage: varies; discuss if on blood thinners. Function: supports proteins involved in bone mineral placement. Mechanism: helps activate vitamin K–dependent bone proteins. Safety: interacts with warfarin-type medicines. []

4. Magnesium — Dosage: depends on diet and product form. Function: supports bone structure and vitamin D metabolism. Mechanism: acts as a cofactor in many bone and hormone processes. Safety: high doses can cause diarrhea. []

5. Zinc — Dosage: age-based; avoid high chronic dosing. Function: supports growth and tissue repair. Mechanism: helps enzymes and proteins needed for collagen and immune function. Safety: excess zinc can cause copper deficiency and stomach upset. []

6. Vitamin C — Dosage: stay within safe limits. Function: collagen support (bone “scaffolding”). Mechanism: needed for collagen formation, which is part of bone matrix. Safety: very high doses can cause GI upset and may raise kidney stone risk in some people. []

7. Protein (food first; supplements if needed) — Dosage: goal depends on age/body size/activity. Function: muscle and bone matrix building. Mechanism: amino acids help build collagen and support muscle that protects bones. Safety: very high protein without enough calcium/vitamin D is not ideal. []

8. Omega-3 (EPA/DHA) — Dosage: product-based. Function: may support healthy inflammation balance. Mechanism: affects inflammatory signaling that can influence bone remodeling. Safety: high doses can increase bleeding tendency in some cases. []

9. Probiotics — Dosage: strain-specific. Function: gut support during/after antibiotics. Mechanism: helps restore healthy gut bacteria balance, which can affect nutrient absorption and comfort. Safety: avoid in severe immune suppression unless clinician agrees. []

10. Collagen peptides — Dosage: product-based. Function: supports connective tissue intake (supportive). Mechanism: provides amino acids used in collagen; evidence varies by product and goal. Safety: usually well tolerated; watch for allergies. []

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Immunity booster / regenerative / stem cell options

1. Good oral hygiene (the most practical “immunity support”): Dental infections are a big avoidable risk in CCD. Purpose: lower infection burden. Mechanism: reducing gum inflammation reduces bacterial load that can spread. This helps your body’s defenses work with less stress. []

2. Vitamin D adequacy (immune + bone support): Vitamin D supports many body functions, including immune signaling and bone. Purpose: support normal immune function and bone mineralization. Mechanism: vitamin D receptors help regulate immune responses and calcium handling. []

3. Zinc adequacy (immune support): Zinc helps immune cells work normally. Purpose: reduce risk of deficiency-related immune weakness. Mechanism: zinc is required for many immune enzymes and gene expression signals. Do not megadose long-term. []

4. Teriparatide (regenerative-style bone building, selected cases): This is not for everyone and is not “CCD-specific,” but it is a true bone-building medicine for severe osteoporosis in approved settings. Purpose: increase bone formation. Mechanism: intermittent PTH signaling stimulates osteoblasts. []

5. Romosozumab (bone formation + lower resorption, selected cases): This is a time-limited osteoporosis medicine for high fracture risk patients. Purpose: improve bone density fast in selected people. Mechanism: sclerostin inhibition increases bone formation signals. []

6. Stem cell therapy (be careful: mostly unapproved for these uses): Many clinics advertise “stem cell cures” for bone problems, but FDA warns that most stem cell products are not approved for general regenerative claims. Purpose (claimed): regenerate tissue. Reality: outside approved blood-forming stem cell uses, many products are unapproved and can be unsafe. Mechanism: not proven for CCD; if it is real research, it should be in regulated clinical trials. []

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Surgeries (procedures and why they are done)

1. Extraction of supernumerary/retained teeth (staged): Done to remove extra teeth and baby teeth that block permanent teeth. This improves eruption paths and reduces crowding. It is often done in planned stages rather than all at once. []

2. Surgical exposure + bonding for orthodontic traction: A surgeon exposes impacted permanent teeth and attaches a small bracket/chain. The orthodontist then pulls the tooth into position slowly. This can prevent tooth loss and improve bite function. []

3. Orthognathic (jaw) surgery: Sometimes done if jaw alignment is severe and braces alone cannot fix chewing and facial balance. It can improve bite, speech, and airway space in selected cases. It is usually planned after growth is near complete. []

4. Dental implants with bone grafting (adult or selected cases): Done when teeth are missing or cannot be saved. Grafting may be needed if bone shape/volume is limited. The goal is stable chewing and long-term oral function. []

5. Ear tube surgery (tympanostomy) or related ENT procedures: Done if repeated ear fluid/infections cause hearing loss or pain. Tubes help ventilation and reduce fluid build-up. Better hearing supports school and communication. []

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Preventions

1. Do early dental screening and keep a written treatment timeline to avoid very delayed eruption and more complex surgery later. []

2. Brush and floss daily and keep regular cleaning visits to lower gum infection risk during long orthodontic phases. []

3. Treat dental infections fast (do not “wait and see” with swelling or fever), because mouth infections can spread. []

4. Use antibiotics only when needed and as prescribed to reduce resistance and avoid antibiotic-associated bowel infection. []

5. Keep vitamin D and calcium intake adequate (food first; supplements if advised) to support bone mineral strength. []

6. Maintain healthy body weight and muscle strength because muscle protects joints and reduces falls. []

7. Avoid smoking and second-hand smoke exposure because it harms gum health and bone healing after surgery. []

8. Use protective gear and safe sports choices if you have fracture risk or prior fractures. []

9. Do hearing checks if you notice muffled hearing or repeated ear infections so learning and speech are protected. []

10. Keep follow-ups even when you feel “fine” because CCD problems often grow slowly and are easiest to treat early. []

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When to see a doctor or dentist urgently

See a clinician soon if you have facial swelling, tooth pain with fever, pus, or trouble opening the mouth, because dental infections can spread and may need antibiotics or drainage. []

Seek care if you have a new fracture after a minor fall, repeated fractures, or ongoing bone pain, because some people with CCD have low bone mineral density and may need evaluation. []

Get medical help quickly if you have breathing trouble, severe sleep problems, or worsening snoring with daytime sleepiness, because airway issues should be checked and treated early. []

Call your clinician if a medicine causes rash, swelling, wheeze, severe diarrhea, fainting, or severe dizziness, because these can be serious side effects or allergies and may need urgent care. []

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What to eat and what to avoid

1. Eat: milk, yogurt, cheese, or calcium-fortified foods to support daily calcium needs for bone mineral. []

2. Eat: fish with bones (like sardines) and leafy greens (if tolerated) as extra calcium sources. []

3. Eat: eggs, fortified foods, and safe sunlight routine to support vitamin D status (food + lifestyle). []

4. Eat: protein at each meal (lentils, eggs, fish, lean meat, dairy, soy) to support bone matrix and muscle. []

5. Eat: vitamin C foods (guava, citrus, berries, peppers) to support collagen formation for connective tissues. []

6. Eat: zinc foods (meat, beans, nuts, seeds) to support normal growth and immune function. []

7. Eat: crunchy, high-fiber foods if your dentist allows (apples, carrots) because chewing can support oral function, but only when safe for braces/traction. []

8. Avoid: frequent sugary drinks and sticky sweets because long orthodontic care increases cavity risk if sugar exposure is high. []

9. Avoid: very acidic drinks (many sodas/energy drinks) often because they can weaken enamel and raise decay risk. []

10. Avoid: smoking/vaping and tobacco exposure because it worsens gum health and healing after surgery. []

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FAQs

1. Is cleidocranial dysostosis the same as cleidocranial dysplasia? Yes—many sources use these names for the same condition affecting skull, clavicles, and teeth. []

2. What causes it? It is most often caused by a change (mutation) in the RUNX2 gene, which helps guide bone and tooth development. []

3. Is it inherited? Often it is autosomal dominant, meaning a parent with the condition can pass it to a child, but new mutations can also occur. []

4. Why can some people move their shoulders inward so much? Because the collarbones can be small or partly missing, shoulder movement can be unusually wide. []

5. Why do permanent teeth come late or get stuck? Extra teeth and bone patterns can block eruption, so teeth stay impacted inside the jaw unless managed. []

6. What is the most important treatment? For many people, the biggest life-changing care is planned dental/orthodontic management (extractions + exposure + traction when needed). []

7. Do all patients need surgery? Not all, but many need some dental procedures; the exact plan depends on tooth number, impactions, and bite. []

8. Can braces alone fix it? Sometimes braces help, but impacted teeth often need a combined surgical + orthodontic approach. []

9. Is bone density always low? Not always, but some affected individuals can have osteopenia/osteoporosis and fractures, so evaluation is sometimes needed. []

10. How is bone density checked? DXA scans are common, but in children/teens results must be interpreted with growth stage and fracture history. []

11. Are there FDA-approved drugs that cure CCD? No—there is no FDA drug that fixes the RUNX2 gene change; medicines are used only to manage problems like pain, infection, or osteoporosis when present. []

12. Is chlorhexidine mouthwash safe for everyone? It is prescription/clinician-directed and helpful for gingivitis, but it can stain teeth and should be used exactly as instructed. []

13. Should I take calcium and vitamin D? Many people can meet needs with food, but if intake is low, clinicians may recommend supplements based on age and diet. Too much can be harmful. [] []

14. Are stem cell treatments approved for this condition? FDA warns that most stem cell products marketed for regeneration are not approved for those uses, so be very cautious and rely on regulated clinical trials. []

15. What kind of doctors usually help? Many people benefit from a team: dentist/orthodontist, oral surgeon, and a doctor who can coordinate bone health and hearing/sleep checks when needed. []

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: January 31, 2025.