Ellis–Van Creveld syndrome is an autosomal recessive condition defined by the presence of chondrodysplasia, polydactyly, and ectodermal dysplasia, as well as congenital heart defects [1] [2]. This rare condition is caused by mutations in the ECV 1 or 2 genes located on chromosome 4, which have been identified in approximately two-thirds of patients [3] [4]. Ellis–Van Creveld syndrome predominantly occurs in the Old Order Amish population in Pennsylvania, in which the incidence is about 5 individuals per 1000 live births [5].

The most frequently observed feature is chondrodystrophy, which is secondary to abnormal ossification [6]. This is notable for disproportionate dwarfism and progressive shortening of the forearms and lower legs. Moreover, bilateral postaxial polydactyly of the fingers is consistently observed in patients with Ellis–Van Creveld syndrome [7] whereas the toes are affected in 10% of cases.

Ectodermal dysplasia in these patients includes involvement of the nails and teeth. Specifically, the nails are hypoplastic and dystrophic. With regards to teeth, they may be abnormally shaped and sized, fewer in number, maloccluded, and demonstrative of hypoplastic enamel [8] [9]. Further oral deformities may include partial harelip, multiple labial frena, and maxillary alveolar clefts [9].

Nearly 50% to 60% of individuals with Ellis–Van Creveld syndrome present with a common atrium and an atrioventricular canal [10]. Other anomalies include patent ductus arteriosus (PDA) and septal wall defects [11]. The presence of cardiac malformation and respiratory failure secondary to thoracic dysplasia are predictive of poor prognosis in affected infants.

The clinical phenotype of this syndrome is variable as the patients may exhibit skeletal abnormalities such as a narrow thorax, lumbar lordosis, and valgus deformity of the knee [12]. Other features may include endodermal effects such as problems with the liver and lungs [11]. Finally, some may also have genitourinary malformations. Note that intelligence is usually normal in Ellis–Van Creveld syndrome patients.

Physical exam

Findings on the exam are remarkable for the above described features. Additionally, newborns and infants with heart disease and cardiac failure will exhibit dyspnea, cyanosis, heart murmur, failure to thrive, and other manifestations.

• Hemophilia A

  Van Mourik JA (2004) Van Creveld, pioneer of hemophilia care and coagulation research in the Netherlands: a personal account. J Thromb Haemost 2:1029–1033 PubMed CrossRef Google Scholar 6. [link.springer.com]

  It started to develop, albeit slowly, during the first half of the 20th century, mendelian inheritance was studied in a number of important disorders such as albinism, brachydactyly, and hemophilia. [wikivisually.com]

• Short Stature

  Three offspring with disproportionate short stature, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for Ellis van Creveld syndrome. [ncbi.nlm.nih.gov]

  The patient presented with short stature, polydactyly, triangular face and dental dismorphism was found appropriately as radiographic with ectodermal dysplasia. [ejgm.co.uk]

  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, [openaccesspub.org]

  Ellis-van Creveld syndrome: A type of short stature with striking shortening of the ends of the extremities (arms and legs), polydactyly (extra digits), fusion of bones in the wrist, dystrophy (abnormal growth) of the fingernails, change in the upper [medicinenet.com]

• Dysostosis

  Current findings expand the Ellis van Creveld syndrome and Weyers acrofacial dysostosis mutation spectra, and provide further evidence that the last exon of EVC2 gene is a hot spot for Weyers acrofacial dysostosis mutations. [ncbi.nlm.nih.gov]

  The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. [ghr.nlm.nih.gov]

  […] acrofacial dysostosis ( WAD ) (also known as Weyers acrodental dysostosis), which are characterized by variable developmental defects involving the skeletal system, ectoderm, and cardiovascular system. [invitae.com]

• Atrial Septal Defect

  Sonography revealed a live fetus with short long bones, polydactyly in the hands and feet, a narrow thorax with short ribs, and an atrial septal defect. All bony structures were of normal hyperechogenicity. [ncbi.nlm.nih.gov]

  such as a hole in the heart (atrial septal defect), occur in about half of all cases Tests include: Chest x-ray, Echocardiogram وGenetic testing may be performed for mutations in 1 of the 2 EVC genes, Skeletal x-ray, Ultrasound, Urinalysis Treatment [sheibaninia.net]

• Nail Abnormality

  We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. [ncbi.nlm.nih.gov]

  Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. [ghr.nlm.nih.gov]

• Turkish

  We present a Turkish family and their 6 children, consecutively affected by Ellis-van Creveld (EVC) Syndrome. [ncbi.nlm.nih.gov]

  Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey ÖZDEN ÖZTÜRK Adiyaman University Faculty of Medicine Corresponding Author:ozd[email protected] Author Profile Abstract Here we report a Turkish child with Ellis-van Creveld [authorea.com]

  Her intelligence is above average; she visited the last term of a German/Turkish grammar school and was planning to go to university. [karger.com]

  The disorder has also been described in English, Dutch, Jewish, Turkish, French-Canadian and a few other persons. [gait.aidi.udel.edu]

  Cağdaş DN, Parlar AI, Pac A et al (2008) A Turkish family with Ellis–van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366). Genet Couns 19:387–395 PubMed Google Scholar 10. [link.springer.com]

• Respiratory Distress

  Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. [ncbi.nlm.nih.gov]

  This is mostly required in the first year of life including treatment of respiratory distress resulting from a narriw chest and heart failure. It is recommended that neonatal teeth be removed as they can impair feeding. [wohproject.org]

  SYSTEMIC EXAMINATIONSYSTEMIC EXAMINATION • RESPIRATORY SYSTEMRESPIRATORY SYSTEM s/o respiratory distress +s/o respiratory distress + B/L crepts + in lower lobeB/L crepts + in lower lobe 13. [slideshare.net]

  Neonatal respiratory distress due to narrow Thorax. treatment No causal treatment available. A multidisciplinary care is needed. [neocyst.de]

  Report of Case A 3½-year-old white female of Italian descent, was admitted to the Jersey City Medical Center, N.J., on March 8, 1961 because of fever and respiratory distress of 24 hours' duration.Past History. [jamanetwork.com]

• Dyspnea

  Additionally, newborns and infants with heart disease and cardiac failure will exhibit dyspnea, cyanosis, heart murmur, failure to thrive, and other manifestations. [symptoma.com]

  The clinical course of both infants was marked by progressive dyspnea and cyanosis, leading rapidly to death in the newborn period. Detailed gross and microscopic pathologic findings are included. [pediatrics.aappublications.org]

• Failure to Thrive

  We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early. [ncbi.nlm.nih.gov]

  Additionally, newborns and infants with heart disease and cardiac failure will exhibit dyspnea, cyanosis, heart murmur, failure to thrive, and other manifestations. [symptoma.com]

  We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early. PDF PD F PDF Download Next Article: Cosmetic Camouflage for Scars [mdedge.com]

  […] to thrive, cyanosis, shortness of breath, or other cardinal signs of heart failure. [emedicine.medscape.com]

• Malocclusion

  The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. [ncbi.nlm.nih.gov]

  Dental abnormalities include malocclusion, conical teeth, enamel hypoplasia and hypodontia. Teeth may erupt prenatally and exfoliate early. Head circumference and mental development in EvC are normal. [wohproject.org]

• Delayed Dentition

  Figure 1: Right eye exotropia with right face turn Figure 2: Short stature and long thorax An oral examination revealed delayed dentition with multiple carious teeth, hypoplastic enamel, and multiple hyperplastic labial freni attached to the gingiva [ [journals.lww.com]

• Heart Disease

  Congenital heart defect, single atria disorders and valvular defects are observed in 50to 60 % of subjects 1, 6 and the survival rate depends on the severity of heart disease 6. [openaccesspub.org]

  What to Watch for With Ellis-van Creveld Syndrome Congenital heart disease is common; therefore cardiologist consultation is strongly recommended at diagnosis. Generally, all skeletal dysplasias warrant multidisciplinary attention. [nemours.org]

  Keywords: Clinical features; Congenital heart disease; Syndrome Case Presentation A 27-year-old female, was referred for evaluation of shortness of breath on exertion of 1 year duration. [austinpublishinggroup.com]

  Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive condition characterized by short-limb dwarfism, postaxial polydactyly, ectodermal defects, and congenital heart disease. [ncbi.nlm.nih.gov]

• Dermatitis

  Menu Close Presented by Cutis Past Issues Career For Authors Register or Login Full Menu Full Menu CME Diseases & Conditions Acne Actinic Keratosis Aesthetic Dermatology Atopic Dermatitis Autoimmune Diseases Contact Dermatitis Hair & Nails Melanoma Nonmelanoma [mdedge.com]

• Genu Valgum

  Clinical features were: a marked acromesomelic short stature (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, hypoplastic nails and teeth, diffuse alopecia, atrioventricular canal, hypoplastic mammary glands and a [ncbi.nlm.nih.gov]

  Bilateral genu valgum with flat feet. The diagnosis of Ellis Van Creveld syndrome was made based on the above features. Echocardiogram and ultrasound abdomen were normal. She underwent corrective osteotomies for bilateral genu valgum. [tropicalgastro.com]

  Keywords : Ellis Van Creveld Syndrome; Polydactyly; Dwarfism; Heart Congenital Defects; Genu Valgum; Diastema. [scielo.org.co]

  Progressive Genu Valgus Progressive genu valgum requires careful follow-up in the longer term. Bracing does not always remove the need for surgery. [nemours.org]

• Narrow Thorax

  The clinical phenotype of this syndrome is variable as the patients may exhibit skeletal abnormalities such as a narrow thorax, lumbar lordosis, and valgus deformity of the knee. [symptoma.com]

  Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. [ncbi.nlm.nih.gov]

• Short Extremities

  Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. [ncbi.nlm.nih.gov]

  Ellis van Creveld syndrome belongs to the group of chondroectodermal dysplastic syndromes with short ribs and polydactyly. Main symptoms are a disproportional hyposomia, short extremities and polydactyly. [neocyst.de]

  Fig. 2 Photograph shows the patient’s disproportionately short extremities and additional postaxial digit on each hand. In 1998, the patient underwent successful ostium primum atrial septal defect closure through a midsternotomy. [smj.org.sg]

Neonates presenting with the above characteristics (i. e, small stature, skeletal abnormalities, cardiac anomalies, etc) warrant a detailed workup consisting of the prenatal and family history (affected family members, parent consanguinity), full physical exam including cardiac evaluation, and the appropriate studies.

Genetic analysis

Sequencing analysis for the EVC and EVC2 genes is available.

Imaging

Skeletal survey in these patients reveals abnormalities such as short ribs, narrow thorax, shortened long bones, and proximal phalanges that are longer than the distal and middle phalanges. Additionally the diaphyses and metaphyses are widened while the epiphyses appear cone-shaped [13]. Furthermore, various types of bone fusions may be present as well. Pelvic X-rays may demonstrate smaller sized iliac crests and sciatic notches.

Cardiac assessment is crucial, and should consist of echocardiography, electrocardiography (EKG), and chest X-ray. Other studies include renal ultrasonography and brain magnetic resonance imaging (MRI). Finally, physicians should employ the use of growth charts to track the growth of the child [14].

Prenatal studies

On prenatal ultrasonography, findings include inadequate fetal growth, skeletal abnormalities, and heart anomalies. This should warrant further investigation.

Malocclusion is common and orthodontic treatment may be necessary (5 and 6). [openaccesspub.org]

Treatment: There is no known treatment other than mutidisciplinatry supportive management. This is mostly required in the first year of life including treatment of respiratory distress resulting from a narriw chest and heart failure. [wohproject.org]

There is no cure for the underlying cause of this condition, and treatment is based on symptoms. In the neonatal period, treatment is based on management of respiratory and cardiac symptoms. [myriad.com]

What is the Treatment of Ellis van-Creveld syndrome? The treatment of EVC syndrome is supportive. A close watch during the first month after birth is required to manage symptoms due to the narrow chest and heart defects. [pediatriconcall.com]

The treatment was divided into three stages: growth observation during which the patient wore acrylic plates with artificial anterior teeth; surgical-orthodontic treatment with sagittal split ramus osteotomy; and prosthodontic treatment with removable [ncbi.nlm.nih.gov]

Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict. [ncbi.nlm.nih.gov]

Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. [smj.org.sg]

The presence of cardiac malformation and respiratory failure secondary to thoracic dysplasia are predictive of poor prognosis in affected infants. [symptoma.com]

The etiology of the condition is obscure, and there is nothing to suggest an hereditary factor. [pubs.rsna.org]

( 12100513 ) Association hydrometrocolpos (not linked to chromosome arm 4p or 20p) ( 15054850 ) thymic hypoplasia ( 12538281 ) nephronophtisis ( 9502561 ) situs inversus totalis (#5770269 #) Cytogenetics segmental uniparental disomy of chromosome 4 Etiology [humpath.com]

The dental literature describing the oral manifestations and etiology of both syndromes is scarce. [researchgate.net]

Etiology The EVC gene was previously localized by linkage analysis to the distal short arm of chromosome 4 [25, 26], in an area proximal to other chondrodystrophias. [ojrd.biomedcentral.com]

Etiology The EVC gene was previously localized by linkage analysis to the distal short arm of chromosome 4 [ 25, 26 ], in an area proximal to other chondrodystrophias. [ncbi.nlm.nih.gov]

Relevant External Links for EVC Genetic Association Database (GAD) EVC Human Genome Epidemiology (HuGE) Navigator EVC Atlas of Genetics and Cytogenetics in Oncology and Haematology: EVC No data available for Genatlas for EVC Gene Mutations in a new gene [genecards.org]

DISCUSSION: Epidemiology Chondroectodermal dysplasia, also known as the Ellis-van Creveld Syndrome, is an autosomal recessive skeletal dysplasia that results in short-limbed disproportionate dwarfism. [gait.aidi.udel.edu]

Elston, professor of epidemiology and biostatistics at Case Western Reserve University. [sciencedaily.com]

Epidemiology Frequency Ellis-van Creveld (EVC) syndrome is a rare disease. [emedicine.medscape.com]

Pathophysiology is unknown. Recently two EVC genes were identified. This may through some light on pathophysiology in future. Morbidity and mortality is related to the thoracic dysplasia, respiratory insufficiency and cardiac anomalies. [ispub.com]

Further research is needed to elucidate the pathophysiological course 29 Sep 2020Submitted to Clinical Case Reports 12 Dec 2020Submission Checks Completed 12 Dec 2020Assigned to Editor 19 Dec 2020Reviewer(s) Assigned 14 Jan 2021Review(s) Completed, Editorial [authorea.com]

Bone deformity, such as knee valgus with lateral tibial plateau depression and patella dislocation, requires ongoing orthopedic follow-up and care. [4] Pathophysiology The pathophysiology of Ellis-van Creveld (EVC) syndrome is unknown; however, a better [emedicine.medscape.com]

Pathophysiology The pathophysiology of Ellis-van Creveld (EVC) syndrome is unknown; however, a better understanding may be achieved now that the genes EVC (MIM #604831) and EVC2 (MIM #607261) have been identified. [2] Histopathologic examination of fetuses [emedicine.com]

SYNDROME Year : 2007 | Volume : 25 | Issue : 5 | Page : 5-7 Ellis Van Creveld syndrome Department of Pedodontics and Preventive Dentistry, Govt. [jisppd.com]

Conclusion 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. [openaccesspub.org]

Ellis-van Creveld syndrome Shilpa S Sasalawad1, Shivayogi M Hugar1, K S Poonacha2, http://orcid.org/0000-0001-8793-5842Rachappa Mallikarjuna2http://orcid.org/0000-0001-8793-5842 1Department of Pedodontics and Preventive Dentistry, KLE VK Institute of [casereports.bmj.com]

Albeit there are numerous articles penned on the EVC, the treatise from an oral perspective is inadequate, covering only oral exhibitions and the preventive treatments. [hindawi.com]

How can I prevent it? The gene must be present in both the parents for the child to get it. However, prenatal diagnosis is possible by gene sequencing of the affected gene (by checking the fetus during pregnancy) by advanced molecular techniques. [pediatriconcall.com]

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