Syndromes With Oral Manifestations in Children
Introduction
Oral manifestations are often key diagnostic indicators in various pediatric syndromes. As pediatricians, recognizing these signs can lead to earlier diagnosis and more effective management of underlying conditions. This comprehensive guide explores several syndromes with significant oral manifestations in children, providing detailed clinical notes to aid in identification and treatment.
1. Down Syndrome (Trisomy 21)
Oral Manifestations:
- Macroglossia: Enlarged, protruding tongue often with fissures
- Delayed tooth eruption: Both primary and permanent dentition
- Microdontia: Smaller than average teeth
- Hypodontia: Congenital absence of teeth, particularly lateral incisors
- Malocclusion: Class III tendency due to midface hypoplasia
- Periodontal disease: Increased susceptibility, often presenting early
- Fissured tongue: Deep grooves on dorsal surface
- Angular cheilitis: Inflammation at corners of mouth
Clinical Considerations:
Regular dental check-ups are crucial for Down syndrome patients. Early intervention for malocclusion and periodontal disease can significantly improve oral health outcomes. Speech therapy may be necessary to address difficulties related to macroglossia. Encourage proper oral hygiene practices and consider prescribing chlorhexidine mouthwash for periodontal health.
2. Ectodermal Dysplasia
Oral Manifestations:
- Anodontia or hypodontia: Complete or partial absence of teeth
- Conical or peg-shaped teeth: Particularly anterior teeth
- Taurodontism: Enlarged pulp chambers in molars
- Xerostomia: Dry mouth due to reduced salivary gland function
- Underdeveloped alveolar ridges: Due to missing teeth
- Enamel hypoplasia: Thin or defective enamel
Clinical Considerations:
Early prosthodontic intervention is often necessary to improve function and aesthetics. Consider referral to a pediatric dentist or prosthodontist for comprehensive oral rehabilitation. Artificial saliva or sialogogues may be prescribed for xerostomia. Genetic counseling should be offered to families, as ectodermal dysplasia has various inheritance patterns.
3. Ehlers-Danlos Syndrome (EDS)
Oral Manifestations:
- Hypermobility of the temporomandibular joint (TMJ)
- Periodontal disease: Accelerated progression due to connective tissue defects
- Delayed wound healing: After dental procedures
- High palatal vault: Gothic arch palate
- Dental crowding: Due to palatal deformities
- Fragility of oral mucosa: Easy bruising and tearing
- Pulp stones: Calcifications within dental pulp
Clinical Considerations:
Careful handling of oral tissues during examination is crucial to prevent injury. Patients may require longer healing times after dental procedures. TMJ disorders are common and may require specialized management. Encourage regular dental visits and meticulous oral hygiene to prevent periodontal disease progression. Consider prophylactic antibiotics for invasive dental procedures due to mitral valve prolapse risk in some EDS subtypes.
4. Cleidocranial Dysplasia
Oral Manifestations:
- Delayed eruption of permanent teeth
- Supernumerary teeth: Multiple extra teeth, often impacted
- Retention of primary dentition
- Malocclusion: Class III tendency
- High arched palate
- Underdeveloped maxilla: Midface hypoplasia
- Mandibular prognathism: Relative or absolute
- Delayed closure of fontanelles: Palpable cranial defects
Clinical Considerations:
Comprehensive orthodontic and surgical management is often necessary. Serial extractions of supernumerary and retained primary teeth may be required to facilitate eruption of permanent dentition. Long-term follow-up is crucial due to the potential for cyst formation around impacted teeth. Genetic testing can confirm the diagnosis, as CCD is caused by mutations in the RUNX2 gene.
5. Orofacial Digital Syndrome (OFD)
Oral Manifestations:
- Lobulated tongue: With hamartomas or lipomas
- Cleft palate or bifid uvula
- Supernumerary frenula: Particularly in the buccal vestibule
- Dental anomalies: Including enamel hypoplasia and oligodontia
- High arched palate
- Alveolar frenulae: Multiple or hypertrophic
- Oral hamartomas: Particularly on tongue and palate
Clinical Considerations:
OFD has multiple subtypes with varying genetic etiology and systemic manifestations. Comprehensive evaluation for associated renal, central nervous system, and digital anomalies is crucial. Surgical intervention may be necessary for cleft palate repair and removal of oral hamartomas. Speech therapy and orthodontic treatment are often required. Regular dental follow-ups are essential due to the high risk of dental anomalies.
6. Papillon-Lefèvre Syndrome
Oral Manifestations:
- Severe periodontitis: Affecting both primary and permanent dentition
- Premature loss of primary teeth: Often by age 4-5
- Rapid alveolar bone loss
- Gingival inflammation and bleeding
- Halitosis: Due to severe periodontal infection
- Mobile teeth: Due to periodontal attachment loss
Clinical Considerations:
Aggressive periodontal management is crucial from an early age. Consider referral to a periodontist for specialized care. Systemic antibiotics may be necessary to control periodontal infection. Early extraction of severely affected teeth and prosthetic rehabilitation may be required. Genetic counseling should be offered, as Papillon-Lefèvre syndrome is inherited in an autosomal recessive pattern.
7. Ellis-van Creveld Syndrome
Oral Manifestations:
- Natal teeth: Present at birth
- Hypodontia: Particularly in the anterior region
- Conical or peg-shaped teeth
- Multiple frenula: Particularly in the buccal vestibule
- Malocclusion: Often associated with anterior open bite
- Enamel hypoplasia
- Delayed eruption of permanent teeth
Clinical Considerations:
Comprehensive dental and orthodontic management is often necessary. Natal teeth may need to be extracted if they interfere with feeding or pose an aspiration risk. Cardiac evaluation is crucial, as congenital heart defects are common in Ellis-van Creveld syndrome. Genetic testing can confirm the diagnosis, with mutations in EVC and EVC2 genes being causative.
8. Noonan Syndrome
Oral Manifestations:
- High arched palate
- Micrognathia: Small mandible
- Dental malocclusion: Often Class II
- Articulation difficulties: Due to palatal abnormalities
- Delayed tooth eruption
- Crowding of teeth: Due to maxillary hypoplasia
- Giant cell lesions: In some cases, affecting jaw bones
Clinical Considerations:
Orthodontic intervention is often necessary to address malocclusion and crowding. Speech therapy may be required for articulation difficulties. Regular dental check-ups are crucial due to the increased risk of caries and periodontal disease. Careful monitoring for giant cell lesions of the jaws is recommended. Genetic testing can confirm the diagnosis, with mutations in several genes in the RAS/MAPK pathway being implicated.
9. Treacher Collins Syndrome
Oral Manifestations:
- Mandibular hypoplasia: Varying degrees of underdevelopment
- Cleft palate: In approximately 30% of cases
- Malocclusion: Often Class II due to mandibular deficiency
- High arched palate
- Choanal atresia or stenosis: Affecting nasal breathing
- Macrostomia: Lateral cleft-like extension of the corners of the mouth
- Dental crowding: Due to maxillomandibular hypoplasia
Clinical Considerations:
Multidisciplinary management is crucial, involving craniofacial surgeons, orthodontists, and speech therapists. Airway management is a priority, particularly in infancy. Orthognathic surgery may be necessary in adolescence to correct severe mandibular hypoplasia. Regular hearing assessments are important due to the high prevalence of conductive hearing loss. Genetic counseling should be offered, as Treacher Collins syndrome is typically inherited in an autosomal dominant pattern.
10. Turner Syndrome
Oral Manifestations:
- High arched palate: Narrow and deep
- Micrognathia: Small mandible
- Malocclusion: Often Class II with anterior open bite
- Dental crowding: Due to small dental arches
- Periodontal disease: Increased susceptibility
- Root shortening: Particularly in molars
- Hypodontia: Congenital absence of teeth in some cases
Clinical Considerations:
Regular dental check-ups are crucial due to the increased risk of periodontal disease and caries. Orthodontic intervention is often necessary to address malocclusion and crowding. Consider referral to an endocrinologist for growth hormone therapy, which can influence craniofacial development. Genetic counseling should be offered, as Turner syndrome is caused by complete or partial absence of one X chromosome in females.
11. Williams Syndrome
Oral Manifestations:
- Malocclusion: Often Class III due to mandibular prognathism
- Dental anomalies: Including hypodontia and microdontia
- Enamel hypoplasia: Increased susceptibility to caries
- Wide smile: Characteristic facial feature
- Periodontal disease: Increased susceptibility
- Tongue thrusting: Contributing to malocclusion
- Hypersensitivity to sounds: May affect dental treatment tolerance
Clinical Considerations:
Regular dental check-ups and meticulous oral hygiene are crucial due to the increased risk of caries and periodontal disease. Orthodontic intervention may be necessary to address malocclusion. Consider using behavior management techniques during dental procedures due to potential hypersensitivity and anxiety. Cardiac evaluation is essential, as cardiovascular abnormalities are common in Williams syndrome. Genetic testing can confirm the diagnosis, typically showing a deletion in the 7q11.23 region.
12. Apert Syndrome
Oral Manifestations:
- Maxillary hypoplasia: Resulting in midface retrusion
- Cleft palate: In approximately 30% of cases
- Dental crowding: Severe, due to maxillary constriction
- Delayed tooth eruption
- Ectopic eruption: Particularly of first permanent molars
- Gingival hypertrophy: Often associated with mouth breathing
- Pseudoprognathism: Relative mandibular prognathism due to maxillary retrusion
Clinical Considerations:
Multidisciplinary management is essential, involving craniofacial surgeons, orthodontists, and speech therapists. Early orthodontic intervention, often including maxillary expansion, is crucial to address severe crowding. Airway management is a priority due to midface hypoplasia and potential obstructive sleep apnea. Regular ophthalmological evaluations are important due to the risk of increased intracranial pressure. Genetic counseling should be offered, as Apert syndrome is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant pattern.
13. Crouzon Syndrome
Oral Manifestations:
- Maxillary hypoplasia: Resulting in midface retrusion
- Mandibular prognathism: Relative or absolute
- Dental crowding: Due to maxillary constriction
- High arched palate
- Cleft palate: Less common than in Apert syndrome
- Posterior crossbite: Due to maxillary constriction
- Ectopic eruption: Of permanent teeth
Clinical Considerations:
Comprehensive orthodontic and surgical management is often necessary. Maxillary advancement surgery may be required in adolescence to correct midface hypoplasia. Regular ophthalmological evaluations are crucial due to the risk of increased intracranial pressure and exorbitism. Airway management is important, as obstructive sleep apnea is common. Genetic testing can confirm the diagnosis, with mutations in the FGFR2 gene being causative in most cases.
14. Beckwith-Wiedemann Syndrome
Oral Manifestations:
- Macroglossia: Enlarged tongue, often requiring surgical reduction
- Anterior open bite: Due to tongue protrusion
- Premature tooth eruption: Particularly natal or neonatal teeth
- Enamel hypoplasia: Increased susceptibility to caries
- Cleft palate: In some cases
- Dental crowding: Due to macroglossia and maxillary constriction
- Mandibular prognathism: Relative or absolute, often exacerbated by macroglossia
- Delayed orthodontic tooth movement: Due to increased bone density in some cases
Clinical Considerations:
Management of macroglossia is crucial, often requiring surgical intervention to improve airway function, speech, and dental alignment. Regular dental check-ups are essential due to the increased risk of caries from enamel hypoplasia. Orthodontic treatment may be necessary to address malocclusion, but care should be taken due to potential increased bone density. Careful monitoring for embryonal tumors, particularly Wilms tumor and hepatoblastoma, is crucial in the first decade of life. Genetic testing and counseling should be offered, as Beckwith-Wiedemann syndrome has complex genetic and epigenetic causes involving the 11p15.5 region.
15. Marfan Syndrome
Oral Manifestations:
- High arched palate: Narrow and deep
- Crowding of teeth: Due to palatal deformities
- Temporomandibular joint disorders: Due to ligamentous laxity
- Retrognathia: Posterior positioning of the mandible
- Dolichocephaly: Long, narrow head shape
- Periodontal disease: Increased susceptibility due to connective tissue abnormalities
- Root deformities: Elongated dental roots in some cases
- Pulp stones: Calcifications within dental pulp
Clinical Considerations:
Comprehensive orthodontic evaluation and treatment are often necessary to address crowding and malocclusion. Care should be taken during dental procedures due to the increased risk of temporomandibular joint dislocation. Regular periodontal maintenance is crucial due to the increased susceptibility to periodontal disease. Cardiac evaluation is essential before any invasive dental procedures, as Marfan syndrome is associated with significant cardiovascular abnormalities. Genetic counseling should be offered, as Marfan syndrome is caused by mutations in the FBN1 gene and is inherited in an autosomal dominant pattern.
16. Prader-Willi Syndrome
Oral Manifestations:
- Enamel hypoplasia: Increased susceptibility to caries
- Thick, viscous saliva: Contributing to increased caries risk
- Dental crowding: Due to small dental arches
- Delayed tooth eruption
- Microdontia: Smaller than average teeth
- Rampant caries: Due to hyperphagia and poor oral hygiene
- Tooth wear: From bruxism and gastric reflux
- Periodontal disease: Increased susceptibility
Clinical Considerations:
Intensive preventive dental care is crucial, including regular professional cleanings, fluoride treatments, and pit and fissure sealants. Dietary counseling is essential to manage hyperphagia and reduce caries risk. Behavior management techniques may be necessary during dental treatment due to potential cognitive impairment and behavioral issues. Consider prescribing artificial saliva or sialogogues to manage thick saliva. Regular screening for sleep-disordered breathing is important, as it can affect dental and craniofacial development. Genetic testing can confirm the diagnosis, typically showing abnormalities in the 15q11-q13 region.
17. Angelman Syndrome
Oral Manifestations:
- Macroglossia: Enlarged tongue, often protruding
- Wide-spaced teeth: Particularly in the anterior region
- Prognathism: Protruding mandible
- Excessive drooling: Due to poor oral motor control
- Bruxism: Frequent grinding of teeth
- Delayed tooth eruption
- Enamel hypoplasia: In some cases
- Tongue thrusting: Contributing to malocclusion
Clinical Considerations:
Behavior management is crucial during dental treatment due to intellectual disability and potential hyperactivity. Consider using protective appliances to prevent tooth wear from bruxism. Speech and feeding therapy may be beneficial to address drooling and improve oral motor function. Regular dental check-ups are essential due to the increased risk of caries and periodontal disease. Genetic counseling should be offered, as Angelman syndrome is caused by various genetic mechanisms affecting the UBE3A gene on chromosome 15q11-q13.
18. Sturge-Weber Syndrome
Oral Manifestations:
- Port-wine stain: Affecting the face, often including oral mucosa
- Gingival hyperplasia: Particularly in areas affected by the vascular malformation
- Macroglossia: In some cases
- Ipsilateral maxillary and mandibular hypertrophy: On the affected side
- Delayed tooth eruption: On the affected side
- Increased risk of periodontal disease: In areas of gingival hyperplasia
- Malocclusion: Due to facial asymmetry
- Increased risk of caries: Due to enamel hypoplasia in some cases
Clinical Considerations:
Careful management of gingival hyperplasia is crucial, which may require surgical intervention. Extra care should be taken during dental procedures due to the risk of excessive bleeding from vascular malformations. Regular neurological evaluations are important due to the risk of seizures and other neurological complications. Ophthalmological assessment is essential due to the risk of glaucoma. Laser treatment may be considered for the port-wine stain. Genetic counseling should be offered, although most cases of Sturge-Weber syndrome are sporadic and not inherited.
19. Sjogren's Syndrome
Oral Manifestations:
- Xerostomia: Severe dry mouth due to salivary gland dysfunction
- Increased caries risk: Due to reduced salivary flow
- Difficulty swallowing and speaking: Due to lack of saliva
- Oral candidiasis: Increased susceptibility due to dry mouth
- Angular cheilitis: Inflammation at corners of mouth
- Enlarged salivary glands: Particularly the parotid glands
- Burning sensation in the mouth
- Increased dental erosion: Due to potential gastroesophageal reflux
Clinical Considerations:
Intensive preventive dental care is crucial, including frequent fluoride applications and use of remineralizing agents. Prescribe artificial saliva or sialogogues to manage xerostomia. Regular screening for oral candidiasis is important, with prompt treatment when detected. Consider recommending sugar-free lozenges or gum to stimulate saliva production. Multidisciplinary management involving rheumatologists and ophthalmologists is often necessary. While Sjogren's syndrome is more common in adults, pediatric cases do occur and should be considered in children with persistent xerostomia.
20. Epidermolysis Bullosa
Oral Manifestations:
- Oral mucosal blistering: Particularly in junctional and dystrophic types
- Microstomia: Restricted mouth opening due to scarring
- Ankyloglossia: Tongue tied to floor of mouth due to scarring
- Enamel hypoplasia: Particularly in junctional EB
- Increased caries risk: Due to dietary factors and oral hygiene difficulties
- Severe periodontal disease: Due to tissue fragility and poor oral hygiene
- Oral cancer: Increased risk, particularly squamous cell carcinoma
- Dental crowding: Due to maxillary and mandibular growth restrictions
Clinical Considerations:
Extremely gentle handling of oral tissues is crucial to prevent blistering and erosions. Consider using soft dental instruments and lubricants during examinations and treatments. Intensive preventive dental care is essential, including home fluoride applications and chlorhexidine rinses. Nutritional counseling is important due to the increased caries risk from a soft, high-calorie diet. Regular screening for oral cancer is crucial, particularly in adolescents and young adults. Multidisciplinary management involving dermatologists, nutritionists, and pain specialists is often necessary. Genetic counseling should be offered, as EB has various inheritance patterns depending on the subtype.
In conclusion, recognizing oral manifestations of these syndromes is crucial for pediatricians to facilitate early diagnosis and appropriate management. Collaboration with dental professionals and other specialists is often necessary to provide comprehensive care for these patients. Regular dental check-ups, preventive measures, and tailored treatment plans are essential to improve oral health outcomes and overall quality of life for children with these syndromes.
