Year : 2010 | Volume
: 21 | Issue : 1 | Page : 143--145
Oral abnormalities in the Ellis-van Creveld syndrome
Department of Pedodontics and Preventive Dentistry, SPPGIDMS, Lucknow, Uttar Pradesh, India
Department of Pedodontics and Preventive Dentistry, SPPGIDMS, Lucknow, Uttar Pradesh
Ellis-van Creveld (EvC) syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.
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Babaji P. Oral abnormalities in the Ellis-van Creveld syndrome.Indian J Dent Res 2010;21:143-145
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Babaji P. Oral abnormalities in the Ellis-van Creveld syndrome. Indian J Dent Res [serial online] 2010 [cited 2019 Nov 21 ];21:143-145
Available from: http://www.ijdr.in/text.asp?2010/21/1/143/62791
In 1940, Richard Ellis and Simon van Creveld described the complete syndrome and named it Chondroectodermal dysplasia.  Later it was named as the Ellis-van Creveld (EvC) syndrome. The syndrome is inherited as an autosomal recessive trait with paternal consanguinity in about 30% of the cases. ,, EvC syndrome is one of the rare syndromes with a birth prevalence of 7/10,00,000. 
EvC syndrome presents characteristic tetrad features:  acromelic dwarfism, narrow thorax, long trunk, and bilateral post axial polydactyly of the hands, ectodermal dysplasia with dystrophic small nails, sparse hairs, hypodontia, and congenital cardiac abnormalities in 50 to 60% of the cases. Usually there is koilonychia and hypoplasia of the finger and toe nails. ,, Often there is hexadactyly ,,,, or polydactyly of the hands or feet and syndactyly and genu valgum skeletal deformities. , Affected males may show cryptorchidism, epispadias or hypospadias.  Cardiac and respiratory problems due to thoracic malformations are the major cause of death.  Anomalies of the central nervous system and the urogenital tract have been reported in some cases. 
Oral manifestations in the EvC syndrome are characteristic and constant. The most constant finding is fusion of the anterior portion of the upper lip to the maxillary gingival margin, as a result of which, no mucobuccal fold exists, causing the upper lip to present a slight V-shaped notch in the middle. ,,,,, Changes in the upper lip are variously called partial hare-lip, lip tie, and so on.  The anterior portion of the lower ridge is often serrated and presents with multiple small labial frenula. The maxillary and mandibular alveolar process presents with notching or submucous clefts and continuous or broad labial frenula and dystrophic philtrum.  Bilateral incomplete clefts or notchings usually involve the region normally occupied by the lateral incisors, each submucous cleft being marked by a moderately sized fibrous band, whose fibers appear to incise the underlying alveolar process and extend across the mucobuccal fold into the lip.  Gorlin et al. believe that this notching is a continuation of the normal serrated condition, which is present from the third to the seventh month in utero. 
Hypodontia involving the maxillary and mandibular incisor region is also a consistent finding. Teeth often present with congenital abnormalities in number, shape, and structure. Teeth abnormalities in the EvC syndrome appear to be due to a genetic effect, occurring during the initiation and morphodifferentiation stages of tooth development.  The phenotypic expression of this disease is quite different for different teeth, with considerable interfamilial and intrafamilial variations.  Teeth tend to be conical in shape ,,,, and often present with various abnormalities such as mesiodens, ,, enamel invasination, pulp stones,  taurodontism, , natal and neonatal teeth, ,, microdontia,  gemination, , supernumerary teeth, and single conical roots in the primary molars. ,, Congenitally missing primary and permanent teeth, malocclusion and delayed eruption of teeth are constant features of the EvC syndrome. ,,,
A 14-year-old girl reported to the Department of Pedodontics and Preventive dentistry, with a chief complaint of missing upper anterior teeth. Her history revealed that she was the first child of consanguineous parents. Her younger brother and all other family members have developed normally.
On examination, her mental development was well within normal limits. Her height was 110 cm, showing acromelic dwarfism for her age. She had a prominent nose, long trunk, and short limbs, with genu valgum skeletal deformity, but her skin and hair showed no abnormalities [Figure 1]. There was hexadactyly in the upper and lower right limbs and polydactyly in the upper left limb. Nails were dysplastic. Fingers were of varied length and syndactyly was seen in the fifth and sixth fingers of the left hand. There was an increased gap between the first and second toe in the lower right limb [Figure 2] and [Figure 3].
On oral examination, there was a fusion of the anterior portion of the upper lip to the maxillary gingival margin, resulting in a shallow vestibule and absence of the mucobuccal fold. Because of this fusion, the middle portion of the upper lip, presented a slight V-shaped notch and shallow mandibular sulcus with abnormal frenal attachment. Upper and lower incisors are congenitally missing and primary canine is retained in mandibular right side. Teeth were conical in shape [Figure 4] and [Figure 5]. Teeth were hypoplastic and irregularly formed with several grooves, resulting in multiple carious lesions. Panoramic radiographic examination showed congenitally missing anterior teeth, a developing supernumerary tooth in the lower left posterior region, and retained maxillary primary second molars with single conical roots and a mandibular canine. Taurodontism was seen in the lower first molars. Root formations of maxillary and mandibular second molars were incomplete [Figure 6]. Treatment was planned by replacement of missing anterior teeth with removable partial denture and restoration of carious teeth with composite restoration. Preventive measures were planned with professional care and home oral hygiene instruction.
The EvC syndrome is an autosomal recessive disorder mainly affecting ectodermal components such as enamel, nails, and hair.  The gene for the EvC syndrome is located on chromosome 4p16.  Polymeropoulos et al.  showed the linkage of the EvC syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at-q = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene, responsible for the achondroplasia phenotype. Serotkin et al.  found features suggesting EvC in an infant who was mosaic for duplication 17q21-1-qter. The EvC syndrome has shown an association with Dandy-Walker syndromes. 
There is an increased risk of caries in the EvC syndrome cases because of irregularly arranged hypoplastic teeth and molars having abnormal cusps or accessory grooves with deep pits and fissures. ,,,,, Hence, patients should be made aware of the importance of preventive measures, such as, proper home oral hygiene, diet control, daily fluoride mouth rinses, and professional care. ,, Professional care can be provided with oral prophylaxis, professional topical fluoride application, and occlusal sealant. Instead of amalgam restoration, composite restorations and pit and fissure sealants are preferred, for a better esthetic result and to conserve tooth structure. ,,, Fusion of the anterior portion of the upper lip to the maxillary gingival margin and congenitally missing anterior teeth can affect the appearance of the patient and cause speech and psychological problems. Hence, it is advocated to replace the missing teeth with an acrylic partial denture or fixed partial denture to maintain space and to improve mastication, esthetics, and speech. ,, Parental and child counseling may be needed to treat psychological trauma. Cardiac defects present in some EvC patients and require antibiotic coverage for the prevention of infective endocarditis.  Surgical correction is advised for soft tissue and skeletal abnormalities. 
It is challenging to the dental team to manage patients with EvC syndrome, both in terms of preventing oral disease and providing restorative care, the latter being further complicated by the possibility of congenital cardiac defects. Hence, special emphasis should be placed on preventive measures along with a multidisciplinary approach.
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