Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is a complex genetic disorder caused by a mutation of particular genes. Its main physiological characteristics are dwarfism, polydactyly that includes additional fingers or toes, abnormal nail structure, and dental malformations. Also, patients with Ellis-Van Creveld Syndrome may have heart defects that cannot be visually identified without specific diagnostic tools. Dental manifestations include enamel hypoplasia and hypodontia. The exact prevalence of this disorder remains poorly investigated because most risk groups are the Amish population that does not share personal information voluntarily. In this report, an eighteen-year-old young lady is presented with the chief complaint of poor appearance of teeth. The medical history includes ventricular hypertrophy and epilepsy. The patient had mandibular natal teeth that were removed. The first line of treatment was offered when the girl was seven, and standard check-ups and orthodontic manipulations were made within the last ten years. Overall, this case proves the importance of radiographic and physical examination, along with the multidisciplinary cooperation of dentists, surgeons, orthodontists, anesthetists, and cardiologists.
Ellis-Van Creveld Syndrome is an atypical and complex genetic disorder that is characterized by additional fingers or toes, abnormal development of nails and teeth, and skeletal transformations. The main cause of this disorder is a mutation of genes (EVC1 and EVC2, in particular). These gene mutations result in the production of abnormally small EVC and EVC2 proteins. Ellis-van Creveld (EVC) syndrome is thought to be due to mutation in the EVC gene and a nonhomologous EVC2 gene located in chromosome 4p16 head-to-head configuration. All these mutations are commonly observed in people who have the classic phenotype. In addition to physiological abnormalities in the person’s fingers and toes, this syndrome’s characteristic features include bilateral ulnar polydactyly and short and usually disproportionate length of long bones. Ectodermal abnormalities include the growth or absence of hair on some parts of the body (e.g., no eyebrows). Heart defects are explained by the abnormal condition of the upper heart chambers.
The first case was reported by Ellis and van Creveld in 1940 and termed as chondroectodermal dysplasia or meso-ectodermal dysplasia. As a genetic disorder, Ellis-Van Creveld Syndrome was thoroughly studied among siblings and relatives to identify common (partial cleft lip and partial anodontia) and distinctive (extra fingers or toes) features and symptoms. Its prevalence varies from 1 to 7 in one million in the general population, but some communities (Amish) do not always report on this disorder officially, and all the cases remain poorly investigated. In this report, attention will be paid to one particular patient to investigate the main signs, family history, diagnostic and assessment techniques, and available treatment plans for Ellis-Van Creveld Syndrome.
An eighteen-year-old girl reported to the Orthodontics clinic, complaining of the poor appearance of upper teeth. The patient was the sixth child born and the third baby born diagnosed with Ellis-van Creveld Syndrome. The girl’s elder brother was diagnosed with Ellis-van Creveld syndrome and died after birth; the parent was consanguineous.
The patient had mandibular natal teeth that were exfoliated after three months and polydactyly, multiple supernumerary fingers that were surgically removed immediately after birth. The child was treated in the neonatal intensive care unit for 40 days under observation due to ventricular hypertrophy. The patient was diagnosed with epilepsy at a younger age, while being kept under medication for eight months; no further signs of epilepsy were noticed. The first visit to the dental and maxillofacial center was in 2008, at the age of 7 years. The patient was detected with multiple primary carious teeth as well as hypodontia. The teeth which proved to be affected by caries were restored, while some primary mobile teeth were extracted.
The patient’s clinical features were characterized by dwarfism, hypoplastic nails, short ribs, and facial asymmetry slightly to the left. The extra-oral examination of the patient’s temporomandibular joint showed that the girl clicked on the right and had a moderate skeletal base with a competent lip and increased lower facial height. An intraoral examination showed that the patient had hypodontia with missing mandibular right and left central and lateral incisors and maxillary right lateral incisor and left central incisors. The child had retained deciduous maxillary left lateral incisors and mandibular right lateral incisors. Furthermore, the patient had a peg-shaped maxillary right central incisor while the upper right canine had a talon cusp. The client had a wide maxillary and mandibular labiogingival frenulum, prominent lower anterior edentulous ridge, average overbite complete to the tooth, and a reverse overjet of 3mm. Besides, there was the palatal displacement of the maxillary left second premolar, class III incisor relationship, and class 3 canine and molar relationships. The patient was seen by the orthodontist at the age of 17 years in 2018 for dentition evaluation. Routine follow-ups with an orthodontic clinic and consideration of orthognathic surgery were recommended. All the third molars were extracted in 2019 under general anesthesia by a professional team, including an oral surgeon, a cardiologist, and an anesthetist.
A dental panoramic tomography taken in 2015 showed that the patient had all permanent teeth except the mandibular left and right central and lateral incisors and maxillary right lateral incisor, which were missing. The client had retained the mandibular right deciduous lateral incisor with retained maxillary left deciduous lateral incisor. A dental follicle in the location of the lower right third molar was seen, and its radiographic appearance was suggestive of malformation of the lower right third molar. A lateral cephalometric radiograph was taken in 2019; it showed class III incisor relationship to moderate skeletal three bases with increased lower facial height as described previously. A Cone-beam computed tomography (CBCT) was done in 2019. It revealed the presence of all permanent teeth except the mandibular left and right central and lateral incisors and the maxillary right lateral incisor. There were retained maxillary left deciduous lateral incisor and mandibular right deciduous lateral incisor. It also proved the lower edentulous area in the mandibular incisor area, malformed upper right central incisor, and occlusal radio-opacity of maxillary right first molar suggestive of a dental amalgam restoration.
At the age of 7 years, the first line of treatment was performed for the patient at the pedodontics clinic and followed up by the general dental practitioner for prevention of dental caries to improve oral hygiene and dietary analysis. At the age of 17 years, orthodontic treatment was initiated for the patient, with risks and benefits being explained. The girl was still undergoing fixed orthodontic appliances at the time of writing this case report. The care plan for this case involved a combination of restorative treatment for malformed right central incisor and restoration of deciduous teeth to appear like permanent teeth with prosthetic treatment for replacement of missing teeth, concluding with orthognathic surgery by the maxillofacial surgeon.
The complexity of Ellis-Van Creveld Syndrome is explained by the emergence of several physiological changes in the patient. In most cases, symptoms can be observed during the first physical examination of the child or the gestational period. These changes include the presence of extra fingers (polydactyly), dwarfism (Figure 1), nail hypoplasia (Figure 2), and facial abnormalities such as asymmetry of the right or the left side of the face. Radiological prenatal ultrasound during gestational period is the main diagnostic tool. Nevertheless, panoramic radiography also could be used at a certain age. Medically certain cardiovascular problems are detected in about 50% of patients, and chest x-rays, electrocardiography, and electrocardiograms are recommended to analyze possible malformations and to offer a treatment plan. In addition to the above-mentioned, patients with Ellis-Van Creveld Syndrome exhibit some dental features such as hypodontia and supernumerary teeth (Figure 3).
Dental panoramic tomography is an important aid in diagnosis dentally (Figure 4).This method shows that patients with the syndrome under consideration could have all permanent teeth, but the maxillary lateral incisors and canines are absent or removed in childhood.During the examination, the patient with polydactyly or dwarfism should also consider the possibility of such differential diagnoses as Majewski Syndrome, Beemer-Langer Syndrome, Saldino-Noonan Syndrome, and Asphyxiating Thoracic Dystrophy.In regards to dental treatment, patient and parent education and prevention strategies play a critical role. It is advised to visit dental clinics regularly and check the condition of the teeth. Treatment in these types of patients’ needs a multidisciplinary team (Orthodontic, Pediatric, Oral surgery, Restorative). Therefore, early diagnosis and treatment plan contribute to a successful outcome. However, orthodontic input remains the major element of dental health care. In this case, prevention was established in line with the Department of Health Preventative Toolkit, which includes using fluoridated toothpaste with at least 1350ppm and reducing the frequency and amount of sugary food and drinks.
The management of patients with Ellis-Van Creveld Syndrome needs the effort of a multidisciplinary team. This disorder has a complex nature and is characterized by several of physiological changes, including facial expression, extremity abnormalities, heart-related problems, and associated emotional concerns. The majority of studies are developed to provide people with enough credible information but not to explain how to predict this disorder. However, with the help of the available diagnostic tools, examination, guidelines, and professionals of healthcare workers, it is possible to reveal other problems and identify the most effective treatment. To conclude, Ellis-Van Creveld Syndrome is a rare genetic disorder that produce a significant physiological changes. Dental management aims to provide a high-quality operative treatment in collaboration with the dental team.
Al Qooz FS, Al Ghatam R. Ellis-Van Creveld syndrome. Bahrain Med Bull. 2018; 40(4): 242-44.
Guiguimdé WP, Agoda P, Bationo R, et al. Oral manifestations in Ellis-Van Creveld syndrome: a case report. J Oral Med Oral Surg. 2018;24(2):76-80.