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.

• 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]

• Vietnamese

  In conclusion, we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. [ncbi.nlm.nih.gov]

• 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.com]

• Abnormal Teeth

  The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. [ncbi.nlm.nih.gov]

  Spranger and Tariverdian [ 22 ] described a father of an EVC patient with fingers and teeth abnormalities, and then reviewed other reports of possible heterozygous manifestations. [ojrd.biomedcentral.com]

• Periodontitis

  Treatment involved non-surgical periodontal management, fabrication of veneers and dentine bonded crowns for maxillary anteriors and fixed-fixed resin retained bridge for mandibular arch. [ncbi.nlm.nih.gov]

• 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]

  Genu valgum is typical and is usually secondary to notching and deepening of the lateral aspect of the tibial epiphysis, as well as a shallow femoral intercondylar notch. [healio.com]

• Absent Clavicle

  Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. [ncbi.nlm.nih.gov]

• Low Self-Esteem

  A 38 year old female diagnosed with Ellis-Van-Creveld syndrome presented with stained teeth and un-aesthetic smile and related that to her low self-esteem and depression. [ncbi.nlm.nih.gov]

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.

• Posterior Fossa Cysts

  Associated abnormalities may include cryptorchidism, epispadias, talipes equinovalgus, and dandy-walker syndrome (absence of cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle). [icd9data.com]

• Left Anterior Fascicular Block

  Echocardiogram showed absence of the atrial sept and the basal portion of the ventricular sept and electrochardiogram--right bundle branch block, left anterior fascicular block and left ventricular hypertrophy. [ncbi.nlm.nih.gov]

• Ventricular Hypertrophy

  Echocardiogram showed absence of the atrial sept and the basal portion of the ventricular sept and electrochardiogram--right bundle branch block, left anterior fascicular block and left ventricular hypertrophy. [ncbi.nlm.nih.gov]

Aesthetics are a major concern with limited manual dexterity, making choice of treatment critical. [ncbi.nlm.nih.gov]

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]

[…] to take care of the possible bacteremia resulting from the treatment. [jomos.org]

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]

Prognosis: Neonatal mortality: 50% due to pulmonary hypoplasia and cardiac problems. The overall prognosis for affected patients is related to the presence or absence of cardiac abnormalities. Intelligence is normal. [fetalmedicine.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. [ncbi.nlm.nih.gov]

These may not explain the disease etiology of the proband; however, they may bring an extra layer of complexity to genetic counseling because all intrafamily members will have an increased risk of having offspring with these recessive conditions due to [karger.com]

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.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]

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]

Preventive measures were planned with professional care and home oral hygiene instruction. [ijdr.in]

To achieve satisfactory functional and aesthetic results, multidisciplinary care planning is necessary for preventing and providing conservative or surgical care to ensure oral health, and to refer patients to the appropriate specialists to prevent cardiac [jomos.org]

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

Prevention Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of EVC syndrome. References Horton WA, Hecht JT. Disorders for which defects are poorly understood or unknown. [mclarenhealthplan.org]

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