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.

• Cervical Lymphadenopathy

  On examination, the child had multiple congenital anomalies and cervical lymphadenopathy. Cardiac examination revealed a pansystolic murmur grade III/VI in left lower parasternal area. [ncbi.nlm.nih.gov]

• Nail Abnormality

  Our patient had all the major characteristic features consistent with Ellis-van Creveld syndrome including post-axial polydactyly, teeth and nail abnormalities, congenital heart defect and skeletal dysplasia. [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]

• Chills

  Author information 1 Department of Pediatric Cardiology, University of Minnesota, MMC 94 Delaware St SE, Minneapolis, MN 55455, USA. chills@chc-pa.org Abstract Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation [ncbi.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]

• Lymphadenopathy

  On examination, the child had multiple congenital anomalies and cervical lymphadenopathy. Cardiac examination revealed a pansystolic murmur grade III/VI in left lower parasternal area. [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]

  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]

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

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

• Abdominal Distension

  Interestingly, he also had severe developmental delay, and suddenly developed excessive abdominal distension at the age of 2. On surgery, extensive necrotic bowel with chronic intestinal pseudo-obstruction was noted. [ncbi.nlm.nih.gov]

• Pansystolic Murmur

  Cardiac examination revealed a pansystolic murmur grade III/VI in left lower parasternal area. Laboratory evaluation revealed significant hypoalbuminemia and hypercholesterolemia, 24 hours urinary protein was 116 mg/hour/m2. [ncbi.nlm.nih.gov]

• 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]

• Distractibility

  Varus osteotomy, distraction osteogenesis, or epiphyseal stapling is one treatment option for valgus malalignment to improve appearance, gait, and function. [ncbi.nlm.nih.gov]

• Incontinence

  One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature. [ncbi.nlm.nih.gov]

• Urinary Incontinence

  One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature. [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.

• Left Axis Deviation

  Electrocardiography showed features of left axis deviation, bi-atrial enlargement and right ventricular hypertrophy. [ncbi.nlm.nih.gov]

• Hypercholesterolemia

  Laboratory evaluation revealed significant hypoalbuminemia and hypercholesterolemia, 24 hours urinary protein was 116 mg/hour/m2. [ncbi.nlm.nih.gov]

• 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]

• Liver Biopsy

  Sequential liver biopsies during the patient's childhood demonstrated progressive fibrosis that can occur in other chondrodysplastic malformations. [ncbi.nlm.nih.gov]

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