Metrics details. Ellis-van Creveld syndrome EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community.
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Type 1 diabetes in a patient with Ellis-van Creveld syndrome. CONTEXT: Ellis-van Creveld EVC syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease.
He received the diagnosis of insulin-dependent diabetes mellitus DM at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect. Upon physical examination, at 22 years of age, he presented stature of The lower limbs showed rhizomelic shortening with significant genu valgum knock-knee deformity , small feet with postaxial polydactyly, syndactyly between the second and third toes and hallux valgus. Multiple melanocytic nevi were evident on the face, thorax and limbs.
The clinical findings presented led to the diagnosis of EVC syndrome. Only one case of this syndrome has been described with DM so far. Attention is drawn to the fact that the genes associated with this syndrome are located close to those of the Wolfram syndrome, a condition that leads to early-onset diabetes.
Ellis-Van Creveld syndrome. Ellis-van Creveld EVC syndrome OMIM , 1 also called chondro-ectodermal or mesodermal-ectodermal dysplasia, is a very rare genetic disease that displays an autosomal recessive trait.
The phenotype is considered indistinguishable among patients with mutations in these genes. EVC syndrome is one of the short-rib polydactyly syndromes characterized by disproportionately short stature, small chest, postaxial polydactyly, abnormalities in nails and teeth and congenital heart defect.
However, inter and intra-familial variability has been reported. Mortality and morbidity in cases of this condition are frequently determined by pulmonary and cardiac complications and, additionally, some disability may result from knock-knee deformity. No other health problems are common in this syndrome. We report here a man presenting a very rare association between EVC syndrome and type 1 diabetes mellitus DM.
The patient was a year-old Caucasian man, the third child of a young, healthy consanguineous couple the parents were first-degree cousins Figure 1 , without similar cases in the family. He did not present any intercurrence at birth, but limb abnormalities were identified.
The pregnancy had been uneventful. The child evolved with a normal neuropsychomotor development: he could hold up his head at three months of age, sat up without support at five months, walked alone at 11 months and pronounced his first words at around one year of age. At two years of age, he was evaluated because of growth retardation, and at this stage, an endocrinologist indicated treatment with calcium and vitamin D. At three years of age, he began to develop genu valgum.
At 12 years of age he underwent femoral varization osteotomy. He began school at seven years of age, continued as far as the fifth year, which he did twice, and then dropped out of school. Insulin-dependent diabetes was diagnosed at 16 years of age at a primary healthcare center, and around one year later, he underwent correction of a partial atrioventricular septal defect AVSD. On physical examination, at 22 years of age, he presented height of The lower limbs showed rhizomelic shortening with significant genu valgum knock-knee deformity , small feet with postaxial polydactyly, small toes especially the third toes with several hypoplastic nails, syndactyly between the second and third toes, bilateral enlargement of the space between the first and second toes, and hallux valgus.
Multiple melanocytic nevi were evident on his face, thorax and limbs Figure 2. Multiple labial-gingival frenulae were not observed. Radiographic evaluation revealed dextroconvex thoracic scoliosis; rectification with inversion of the physiological kyphosis; brachyphalangia with shortening of the metacarpal and metatarsal bones of both the hands and the feet; postaxial polydactyly of the hands with duplication of the fifth metacarpal bones; conical epiphyses; significant bilateral genu valgum; curving of the tubular bones most notably in the lower limbs with deformity of the epiphyses; foot deformity with enlargement of the metatarsal bones and phalanges; postaxial polydactyly with six metatarsal bones in both feet; and presence of osteochondromas and osteoporosis Figure 3.
He had symptoms of dysuria and mictional urgency, and a urodynamic evaluation revealed detrusor hyperactivity, a bladder with diminished capacity and complacency, diminished urinary flow and increased sensitivity suggestive of irritative and infectious factors, including diabetes. Abdominal ultrasound did not identify any presence of structural abnormalities.
The patient also had a history of knee and back pain that had increased over the last few months. He was being followed up at the orthopedics department of the hospital because of the significant genu valgum. Furthermore, he was receiving care in the endocrinology department and was using NPH neutral protamine Hagedorn insulin, but with poor diabetes control.
He started treatment in the hospital at the age of 22 years. NPH insulin was initially prescribed, consisting of 25 units before breakfast and 10 units before dinner. However, his lack of diabetes control persisted, and he showed symptoms of polyuria and nocturia. His glycated hemoglobin level was 8. Subsequently, the NPH insulin dose was changed to 26 units before breakfast and 14 units before dinner. After this, the patient developed episodes of hypoglycemia.
The new glycated hemoglobin level was 9. In the latest assessment, the scheme was changed to an NPH dose of 28 units before breakfast and 18 units before dinner. An ophthalmological evaluation showed the presence of cataracts, with an indication for surgery. His blood pressure was normal mean of x 80 mmHg.
Thyroid, liver and kidney function tests were all normal. The patient was also reevaluated in the cardiology department and underwent an electrocardiogram, which was normal.
EVC syndrome is considered to be a condition with variable features that involve multiple organs. The findings observed in our patient, of disproportionately short stature, polydactyly of the hands and feet, nail and tooth abnormalities and cardiac malformation, supported this diagnosis. The prognosis in cases of EVC syndrome is commonly determined by cardiopulmonary problems, especially during the neonatal period.
Other congenital heart malformations that have been described include a single atrium, defects of the mitral and tricuspid valves, patent ductus, ventricular septal defect, atrial septal defect and hypoplastic left heart syndrome. Diabetes mellitus is not considered to be a component of EVC syndrome, and, in our literature review, using the PubMed, Scirus, Embase, Cochrane Library, Lilacs and SciElo databases, we saw only one report describing this association 5 Table 1.
Autoimmune conditions are uncommon among patients with EVC syndrome. Thus, more reports will be necessary in order to determine whether the type 1 DM observed in our patient may be a true feature of the clinical spectrum of the syndrome. We cannot rule out the possibility that the association between EVC syndrome and DM observed in our patient may have been merely coincidental. Online Mendelian Inheritance in Man. Accessed in Apr 6. What syndrome is this?
Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol. Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Postek G. Pol Tyg Lek. J Pediatr Rio J. Wolfram syndrome and WFS1 gene. Clin Genet.
Daneman D. Type 1 diabetes. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Journal. How to cite this article.
Ellis–van Creveld syndrome
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Ellis-van Creveld syndrome EVC is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. Other search option s Alphabetical list.
Ellis-Van Creveld syndrome
Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature dwarfism. People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes polydactyly , malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems. The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. 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.
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Ellis—van Creveld syndrome also called mesoectodermal dysplasia but see ' Nomenclature ' section below is a rare genetic disorder of the skeletal dysplasia type. Ellis—van Creveld syndrome often is the result of founder effects in isolated human populations , such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is autosomal recessive , meaning that both parents have to carry the gene in order for an individual to be affected by the disorder.
Ellis-van Creveld syndrome
Alternative titles; symbols. Ellis-van Creveld syndrome can also be caused by mutation in a nonhomologous gene, EVC2 , located close to the EVC gene in a head-to-head configuration. Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene or in the EVC2 gene Ruiz-Perez et al. Almost as many persons were known in this one kindred as had been reported in all the medical literature up to that time. Features are dwarfism with most striking shortening in the distal part of the extremities, polydactyly, fusion of the hamate and capitate bones of the wrist, dystrophy of the fingernails, change in the upper lip variously called 'partial hare-lip,' 'lip-tie,' etc.