Ellis Van Creveld Syndrome is a rare genetic condition, notable due to its distinctive blend of orofacial features and systemic manifestations. The prevalence of Ellis Van Creveld Syndrome is estimated to be 7 per 10,00,000 population, and more than 300 cases have been reported.¹ The dental and oral manifestations are the earliest and most noticeable indicators, helping in timely diagnosis and intervention.

What is ellis-van creveld syndrome?

Ellis Van Creveld Syndrome (EVC syndrome), also known as chondroectodermal dysplasia, is an extremely rare genetic disorder that was first reported in 1940 by Richard Ellis and Simon Van Creveld. Ellis Van Creveld Syndrome is an autosomal recessive disorder associated with mutations of the EVC and EVC2 genes located on chromosome 4. These genes are part of the hedgehog signalling pathway, critical to the healthy development of bones, cartilage and teeth.²

Ellis Van Creveld Syndrome involves several body systems, including the skeleton, nails, and heart, but the oral and dental manifestations appear characteristic. Dentists are the initial healthcare practitioners to suspect the diagnosis because the oral signs manifest very early in life. Knowledge of these manifestations is not only important for delivering dental treatment but also aids in early diagnosis, timely intervention and overall management of the patients.

Orofacial features

Children with Ellis Van Creveld Syndrome often have distinct orofacial traits that set them apart from other conditions.

• Notched Upper lip: This is due to the fusion of the inner surface of the lip with the gums, resulting in the absence of space between the lip and gums. This gives the lip a notched or hare lip-like appearance
• Multiple frenula: In many cases, there are several small frenula, or thin tissue bands, connecting the lips to the gums. Instead of having one midline labial frenum, multiple accessory frenula attach to the lip, which limits their flexibility and impacts oral function
• Facial morphology: A short upper lip, small philtrum and restricted mouth opening, though subtle, are responsible for creating the distinctive facial appearance seen in Ellis Van Creveld Syndrome patients

Soft tissue oral findings

In addition to the noticeable changes in the face and lips, Ellis Van Creveld Syndrome also produces significant changes in the soft tissues within the mouth. 

• Fused lip and gums: The fusion of the lips to the gums results in the absence of the mucobuccal fold. This makes oral hygiene maintenance and fitting prosthetics more difficult
• Serrated alveolar ridges: The alveolar ridges often appear serrated or uneven in the front region with missing teeth. These ridges are characteristic of the condition and can be observed during a simple intraoral examination
• Palatal changes: In some patients, the palate may be high arched or associated with a cleft. This feature can disrupt normal speech and feeding, particularly in children

Dental manifestations

Patients with Ellis Van Creveld Syndrome exhibit noticeable dental manifestations affecting the number, shape, structure, and eruption of the teeth.

An abnormal number of teeth

• Hypodontia: The upper and lower front teeth are seen missing in both primary and permanent teeth
• Supernumerary teeth: Extra teeth are seen in the front region of the upper and lower jaw, contributing to the irregular dental pattern
• Natal and Neonatal teeth: These teeth are found at birth or erupt shortly after birth

Altered tooth shape and size

• Conical and Peg-Shaped: The permanent upper and lower front teeth appear in a peg-like or conical shape
• Talon Cusp: Molars may have unusual surfaces that resemble mulberries, or extra cusps may be seen on the molars
• Microdontia: The size of the teeth is smaller than normal

Structural anomalies

• Enamel Hypoplasia: Enamel formation is severely affected,  resulting in thin, rough, or pitted enamel surfaces, which weaken the teeth and increase the risk of dental caries
• Abnormal Root Morphology: Radiographs often show unusual root shapes, such as Taurodontism, which characterises molars with enlarged pulp chambers
• Single Rooted Molars: Molars that taper into a single funnel-shaped root instead of having multiple roots⁴

Eruption disturbances

• Delayed Eruption: Both primary and permanent teeth erupt later than usual. This causes prolonged retention of milk teeth, leading to mixed dentition
• Failure of Eruption: In some cases, permanent teeth may not erupt at all, leaving impacted or unerupted teeth visible only on the radiographs

Malocclusion tendencies 

Patients with Ellis Van Creveld Syndrome develop malocclusion because of missing, malformed, or delayed eruption of the teeth. 

• Crossbite: Occurs due to missing front teeth and lower jaw extrusion
• Crowding: Results from extra teeth and delayed eruption
• Open bite: Occurs when the front teeth do not erupt properly or are rotated⁵

Functional and clinical implications

The oral and dental features of Ellis Van Creveld Syndrome are not only important diagnostic factors, but impact a patient's quality of life, systemic health and psychological aspects.

Mastication and nutrition

• Early tooth loss and improper teeth alignment decrease the efficiency of chewing
• Enamel hypoplasia makes a person more susceptible to cavities, and having multiple cavities can cause early loss of teeth, which makes chewing difficult
• Neonatal teeth, shallow folds and cleft palate make it difficult for breastfeeding or bottle feeding, requiring help

Speech and communication

• The absence of front teeth and the presence of unusual tooth shapes change vocal patterns
• The fusion of the upper lip to the gums and several frenula limits tongue and lip movement, resulting in difficult speech
• Children do not like to speak in public if they have a distinct orofacial appearance, reducing their self-esteem

Oral health challenges

• Dental care is compromised due to deep grooves, extra cusps and crowding of teeth
• Improper teeth alignment can make brushing difficult, leading to gum inflammation
• Poor oral hygiene, in turn, paves the way for recurrent oral infections

Aesthetics and psychosocial impact

• Missing front teeth and cone-shaped teeth can give a distinct facial appearance
• For children and teenagers, this can lead to loss of confidence in their smiles, not wanting to smile or even being subjected to bullying
• Functional issues and aesthetic concerns may diminish self-confidence, affecting education, career prospects and personal relationships⁶

Management and treatment strategies

Managing the oral and dental problems associated with Ellis Van Creveld syndrome is difficult. Treatment should be tailored to each patient, considering their age, the severity of dental issues, overall health, and psychological needs. A team approach is necessary, involving dentists, surgeons, paediatricians, and speech therapists.

Preventive and early dental care

• Caregivers and patients need instructions on effective brushing and flossing techniques
• Regular topical fluoride applications and usage of fluoride toothpaste help strengthen weak enamel and lower the chance of cavities
• Applying sealants on molars with abnormal occlusal surfaces can prevent decay in deep grooves and pits

Restorative and prosthodontic interventions

• Removable partial dentures and space maintainers are used in children to restore function and appearance
• In adolescents and adults, fixed prostheses might be an option if there is enough tooth and bone support
• Crowns and composite restorations can improve the appearance of the front teeth

Orthodontic management

• Orthodontic braces can close gaps from missing teeth
• Many patients need interceptive orthodontics to fix issues like crossbites, crowding, or open bites
• Conditions like hypodontia, taurodontism, and unusual bone structure make tooth movement unpredictable, requiring careful and personalised planning

Surgical management 

• Multiple frenula and shallow folds can affect oral hygiene and limit lip movement; surgical correction can enhance function and improve cleaning access
• Extraction of neonatal or supernumerary teeth, as they affect feeding and the eruption of permanent teeth

Speech and functional rehabilitation

• Speech therapy addresses speech issues resulting from limited lip movement or any abnormal oral structure
• Well-designed dentures or restorations can support speech by restoring proper relationships between the tongue, teeth, and lips

Multidisciplinary considerations

• Patients with Ellis Van Creveld Syndrome have congenital heart disease. Before any surgical or invasive dental procedures, consulting a cardiologist is essential
• Genetic counselling helps families understand inheritance risks
• Paediatricians help monitor growth, nutrition, and overall health
• Counselling can help address issues like social anxiety, low self-esteem, or bullying^{7, 8}

Summary

Ellis Van Creveld syndrome is an uncommon genetic condition that has skeletal, cardiac, and oral features. Oral and dental manifestations are important for early detection and management. Typical features are fusion between lip and gingiva, multiple frenula, hypodontia, supernumerary teeth, conical crowns, enamel defects, and delayed tooth eruption. Such characteristics interfere with chewing, speech, oral hygiene and appearance and are associated with both functional and psychosocial implications. Management is aimed at maintaining preventive therapy, restorative or prosthetic treatment, orthodontic correction, surgical treatment, speech training and counselling. With early detection and tailored treatment, patients can avoid many complications and have a healthier, more confident and more enjoyable life.