|Year : 2021 | Volume
| Issue : 3 | Page : 180-182
Ellis–van creveld syndrome: A rare autosomal recessive genetic disorder
K Ravi, Suraj S Hegde
Department of General Medicine, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India
|Date of Submission||20-Feb-2020|
|Date of Decision||17-Mar-2020|
|Date of Acceptance||16-Apr-2020|
|Date of Web Publication||16-Jul-2021|
Dr. Suraj S Hegde
Post Graduate, Department of General Medicine, Victoria Hospital, Bangalore Medical College and Research Institute, K. R Market, Bengaluru - 560 002, Karnataka
Source of Support: None, Conflict of Interest: None
Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects, and hypoplastic nails and teeth. There have been few case reports of this syndrome published mainly in dental literature. We report a case of a 40-year-old male presenting with typical features of this syndrome.
Keywords: Autosomal recessive, chondroectodermal dysplasia, hypoplastic nails, postaxial polydactyly
|How to cite this article:|
Ravi K, Hegde SS. Ellis–van creveld syndrome: A rare autosomal recessive genetic disorder. APIK J Int Med 2021;9:180-2
|How to cite this URL:|
Ravi K, Hegde SS. Ellis–van creveld syndrome: A rare autosomal recessive genetic disorder. APIK J Int Med [serial online] 2021 [cited 2021 Jul 29];9:180-2. Available from: https://www.ajim.in/text.asp?2021/9/3/180/321665
| Introduction|| |
Ellis–van Creveld (EVC) syndrome or chondroectodermal dysplasia was first described in 1940 by Richard W. B. Ellis and Simon van Creveld as a rare autosomal recessive disorder due to a genetic defect located in chromosome 4p16.,, It is caused by mutation in the EVC gene as well as by a mutation in a nonhomologous gene EV2, located close to the EVC gene in a head-to-head configuration with parental consanguinity in about 30% of cases.,, In 1964, a large number of cases were reported in the Amish community of Lancaster Country, Pennsylvania, USA, and also in Australia. The birth prevalence in the Amish population is 1/5000 live births. Around 150 cases have been described in literature.,, Not more than 25 cases have been reported in India. EVC presents with a characteristic tetrad: 1. disproportionate dwarfism, 2. bilateral postaxial polydactyly, 3. ectodermal dysplasia, and 4. congenital heart malformation.,
| Case Report|| |
A 35-year-old male presented with complaints of breathlessness and cough with expectoration for 1 week. The patient was a known case of chronic obstructive pulmonary disease (COPD) and was diagnosed as an acute exacerbation of COPD with cor pulmonale. There is no history of consanguineous marriage. Antenatal, natal, and neonatal histories were noncontributory with no significant family history.
On general physical examination, the patient had a short stature with bilateral postaxial polydactyly of hands with bimanual hexadactyly noted on the ulnar side. The patient's intellectual ability was within the normal range (Mini-Mental State Examination scoring: 29). Chest-ray and echocardiography were performed to rule out any chest and cardiac defects with X-ray showing features of COPD and two-dimensional (2D) echo showing dilated right-sided chambers. Ultrasonography of the abdomen and pelvis was done to rule out genitourinary abnormalities and was found to be normal. Orthopedic and dental opinions were taken in view of skeletal and dental deformities.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6] show some of the characteristic features of the syndrome in our patient.
|Figure 3: X-ray hand showing postaxial polydactyly (anteroposterior view)|
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|Figure 6: X-ray of foot showing talipes valgus, short and wide middle and distal phalanges|
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| Discussion|| |
EVC syndrome, also known as chondroectodermal dysplasia, is a genetic disorder with autosomal recessive inheritance. Our patient is the eldest son among three siblings without any similar features in parents and siblings. The most common clinical feature is chondrodystrophy due to defective ossification affecting tubular bones resulting in shortened long bones of the limbs, especially distal and middle segments resulting in acromesomelic dwarfism which include bilateral postaxial hexadactyly most often seen in the upper limbs on the ulnar side and can also involve the lower limb in 10% of cases., They also have wide hands and feet, sausage-shaped fingers, and dysplastic fingernails. Our patient had hexadactyly only in the upper limbs but not in lower limbs with no syndactyly.
Other features include genu valga, curvature of the humerus, talipes equinovarus, talipes calcaneovalgus, and pectus carinatum with a long narrow chest. Congenital heart malformations will be present in 50%–60% of patients., The anomalies include defects of the mitral and tricuspid valves, patent ductus arteriosus, ventricular septal defect, atrial septal defect, and hypoplastic left heart syndrome, which are the principal causes of decreased life expectancy in these patients.,,
The disease has characteristic oral manifestations that help in early diagnosis at birth or during early childhood. The most common oral manifestations include fusion of the upper lip to the gingival margin which can result in the absence of mucobuccal fold, broad maxillary labial frenum, partial harelip, multiple small accessory frenula, ankyloglossia, malocclusion, microdontia, hypodontia, anodontia (commonly the absence of permanent mandibular central and lateral incisors), and enamel hypoplasia.,,,
The definitive diagnosis is based on the homozygosity for a mutation in the EVC 1 and/or EVC 2 genes by direct sequencing. However, the genetic mutations are not routinely required for the clinical diagnosis as genetic mutations are positive in only two-third of patients. Due to the lack of availability of genetic studies, the diagnosis was achieved clinically based on the observation of the symptoms and manifestations as described and also with the help of other additional tests such as chest X-ray, ultrasound, laboratory investigations, and cardiac function tests such as 2D echocardiogram.
Around 50% of patients with EVC die in early infancy as a result of cardiorespiratory problems. In the neonatal period, the leading causes of death include cardiac anomalies and thoracic dysplasia. Patients who survive infancy with nonlife-threatening pulmonary or cardiac functions are expected to have a normal lifespan.
A multidisciplinary team approach is always advised, which includes pedodontist, oral and maxillofacial surgeon, prosthodontist, clinical geneticist, cardiologist, pulmonologist, orthopedician, urologist, psychologist, pediatrician, and pediatric neurologist for suitable diagnosis, management, and rehabilitation of such patients. The dentist plays a very important role in early diagnosis and establishing treatment protocols (aesthetic and functional) that is helpful in improving the quality of life of patients.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]