Ellis-Van Creveld (EVC) syndrome is a rare disease 1, 2 that is a result of mutations in two non-homolog genes EVC1 and EVC2 on chromosome 14p16 24. The syndrome was first introduced by Ellis and Van Creveld in 1940 5. Another name for this syndrome is meso-ectodrmal dysplasia or chondroectdermal dysplasia. The incidence of EVC in general population is low 6.This syndrome is most prevalent inthe Amish population of USA.Thebirth prevalence in Amishpopulation non  is estimated to be 7/1.000.000 of live birth5, 6 This disease is inherited in a autosomal recessive form and all three germ cell layers are involved 67 but heterozygous individuals are asymptomatic 6. According to reports that have been published, EVC has similar prevalence in men and women 7.

Diagnosis of the disease does not require genetic analysis, but x-rays, laboratory examinations, and clinical heart tests are necessary for clinical diagnosis 4. Prenatal diagnosis by ultrasonography is possible after the eighteenth week of pregnancy 7. Clinical manifestation of this disease is observed as Tetrad 46:

We present a seven-years-old girl with Ellis-Van Creveld syndrome.

After overall examination short stature, deformity of the knee (genu valgum), Polydactyly (previously surgically corrected), small dystrophic nails and hypo plastic phalanges of toe and fingers were observed (Figure 1).

The mandibular and maxillary incisors were absent (excluding upper left lateral maxillary incisor which was loose) mandibular deciduous molars, right maxillary first deciduous molar and left deciduous maxillary canine had severe decay and the right maxillary permanent canines were erupting. Multiple frenulum and attaching labial mucosa to alveolar mucosa were also observed (Figure 2).

In Radiographic examination of tooth, maxillary incisor tooth germs were absent and all of the four “second permanent molars” were un-erupted and root of primary mandibular canines have severe mesial curve (Figure 2).

Dental treatment process was performed ordered respectively as bellow:

Failure of intracartilage Ossification is involved in the etiopathogenesis of EVC 6. EVC gene encodes Limbin protein. This protein is highly expressed in duplicating chondrocyte, osteoblasts, and osteoclasts 2. Two genes that encode this syndrome can be coordinated by a promoter, so mutations in either of these genes can cause the same phenotype 2.Consanguineous marriage of parents plays a role in increasing prevalence of this syndrome 4.

The most important clinical feature is chondrodystrophia 7. Some clinical features are usually present but their absence does not rule out diagnose 1. Manifestations, usually observed after the birth, are disproportionate short stature increasing from the proximal to the distal, shortness of middle pharyngeal bone and polydactyly of hands and feet and hydrotic ectodermal dysplasia that affect teeth, hair, and nails 1.

The disease affects tubular bones and causes shortening of stature, narrow chest and etc. 4Sometimes Genu valgum are also observed in knees 6and Post axial bilateral polydactyly occur more often on the ulnar side 46. Clinical findings of this patient were similar the other reports of EVC syndrome in the case of short stature, oral manifestation, polydactyly, nail dystrophy, heart disease and familial history 268.

The” Weyers Acrofacial Dysostosis”, “Orofacial Digital”,” Jeune, McKusick-Kaufman Syndrome (MKK) and “Short Rib Polydactyly (SRP)” are included in EVC differential diagnosis.

Weyers Acrofacial Dysostosis syndrome is transmitted as a dominant autosomal, it is similar to EVC syndrome genetically and based on its prevalence, midline facial anomalies are only observed in EVC and short stature is less severe in Weyers Acrofacial Dysostosis 2.

Orofacial Digital syndrome is also considered in the differential diagnosis 8, but this syndrome is limited to females and the patient has limited mental retardation 7.

Jeune syndrome differentiates from EVC by pigmentation in the retina, kidney involvement, small chest, liver dysplasia and intestinal abnormalities. Moreover, no fingernail problems are observed in Jeune syndrome 57. Hydrometrocolpos in the EVC helps differentiate it from (MKK) 5. (SRP) Syndrome type Ill.is very similar to EVC, but mutations of these two syndromes are different 1.

Main oral manifestations of EVC syndrome include upper lip fusion, multiple frenula and Hypodontia 68.Its specific dental appearance helps diagnose it at an early age 68.This manifestations were observed in this patient too.

Because dental manifestation influences in aesthetic, speech, and development of jaw, the dentist plays an important role in diagnosis and consolidation of treatment 48. Dental treatment should be done through team work. Surgical treatments are needed to treat heart defects 36. Many of Patients with this syndrome need to fix bone anomalies and before surgery dental problems should be treated in order to prevent post -surgery infection and probable endocarditis 6. General and short-term superficial anesthesia, prevention of endocarditis, checking heart and lung symptoms during surgery, and monitoring of the patient in the ICU after surgery should be considered 6.

Due to the loss of a number of teeth, patients need some facilities to restore function and beauty during growing up, including acrylic partial anterior denture to keep the dental space and improve chewing, beauty, and speech 65. When patients grow up, they need implants and prosthesis replacement. Malocclusion is common and orthodontic treatment may be necessary (5 and 6).

Dental treatment of deep grooves of molars need fissure sealant a; and regular oral hygiene program and use of fluoride varnish or mouthwash are required due to enamel hypoplasia and dental abnormalities56.

According to the high mortality rate and low quality of life of the affected patients, genetic counseling is necessary to prevent recurrence of the disease 2. Regarding to several oral manifestations, it is suggested to prepare standard treatment protocols to manage dental problems of the patients with this syndrome and other syndromes involving the craniofacial region.