Ellis van Creveld syndrome (EVC) is a rare autosomal recessive disorder also called chondroectodermal dysplasia. This study reports on a 40-year-old woman from Iran with a syndromic appearance consisting of a coarse face, conical anterior teeth, dental agenesis and permanent teeth at birth, several small extralabial, nonmidline frenula with a high-arched palate, and a large maxillary labial frenulum. The patient had cyanosis on her lips since childhood and a history of adenoid tonsillectomy surgery. She also had androgenic alopecia, an elongated trunk with excessive lordosis and pectus excavatum, polycystic ovarian syndrome, and a history of two periods in a month. She also had multiple fibrocystic cysts in her breasts, lower extremity deformity, dysplastic genu valgum, and short limb dwarfism; she had undergone left knee surgery four times and had severe osteoporosis in some of her bones and some hyperpigmented patches on the dorsal of the left hand. Her hands and feet were also wide and markedly deformed with hypoplastic fingernails and toenails, and she had bimanual hexadactyly on the ulnar side of the hands. She also had a history of severe hypotension and cyanosis during surgery and suffered from congenital heart failure and had undergone open heart surgery for correcting her atrial heart defect. In this study pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts was reported for first time in this case of EVC syndrome. This case was reported and all articles regarding common, uncommon, rare, and extremely rare presentations of this syndrome were reviewed.

OBJECTIVE: A systematic literature review on oral and craniofacial manifestations of Ellis-Van Creveld syndrome was performed.
METHODS: From 2 databases were selected 74 articles using as key words \"Ellis-Van Creveld\" AND \"Oral\" OR \"Craniofacial\" OR \"Dental\" OR \"Malocclusion\". Prisma protocol was used to create an eligible list for the screening. Data were collected in a table to compare the clinical aspects found.
RESULTS: From the first research emerged 350 articles, and only 72 of them were selected.
CONCLUSIONS: Through this analysis oral and cranio-facial manifestations of Ellis-Van Creveld syndrome were pointed out. Management of Ellis-Van Creveld syndrome requires a multidisciplinary approach involving different clinicians; dentists play an important role in early diagnosis and treatment of the patients.

Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the ultimate diagnosis of a ciliary chondrodysplasia case presented with an initial clinical diagnosis of Asphyxiating Thoracic Dystrophy (ATD, Jeune Syndrome). We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V. The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient. Cell culture studies revealed normal subcellular localization of the mutant WDR35 protein in comparison to wildtype protein, pointing towards impaired protein-protein interaction and/or altered cell signaling pathways as a consequence of the mutated allele. This research study highlights the importance of including pathogenic variant identification in the diagnosis pipeline of ciliary chondrodysplasias, especially for clinically not fully defined phenotypes.

BACKGROUND: Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. Other reported features include polydactyly, renal, liver and retinal involvement. To date, mutations in IFT80, DYNC2H1, TTC21B and WDR19 have been reported in ATD. The clinical and molecular heterogeneity leads to difficulties in the evaluation of the long-term prognosis.
METHODS: We investigated 53 ATD cases (23 living cases and 30 fetuses) from 39 families. They benefited from a combined approach of deep phenotyping and IFT80 and DYNC2H1 molecular screening.
RESULTS: Among the 23 postnatal cases, pulmonary insufficiency was noted in 60% of cases, with tracheotomy requirement in five cases. Renal and liver diseases occurred respectively in 17% and 22% of cases, whereas retinal alteration was present in 50% of cases aged more than 5 years. We identified DYNC2H1 mutations in 23 families (59%) and IFT80 mutations in two families (5%). However, in six families, only one heterozygote mutation in either IFT80 or DYNC2H1 was identified. Finally, the two genes were excluded in 14 families (36%).
CONCLUSIONS: We conclude that DYNC2H1 is a major gene responsible for ATD, while IFT80 is rarely involved. The presence of only one mutation in six families and the exclusion of the two genes in 14 families support the involvement of other causal cilia genes. The long-term follow up emphasizes that the pulmonary prognosis is probably less pejorative and retinal involvement more frequent than previously thought.

Ellis-van Creveld Syndrome (EVC) is a rare autosomal recessive disorder. In 1940 Richard W. Ellis and Simon van Creveld first reported on a rare skeletal dysplasia, which to emphasize the main clinical characteristics, was termed \"chondro-ectodermal dysplasia\". The ectodermal involvement includes the skin, hair and nails while the chondrodysplastic characteristics involve the cartilage and bones, primarily in the forearms and lower legs. For the orthopaedic surgeon progressive valgus knee deformity accompanied by patella dislocation is the main problem in EVC. This study reports a ten year follow-up after a primarily failed operative therapy of knee deformity due to incomplete correction and the surgical technique utilized to correct the residual external torsional deformity and dislocation of the patella in a 19 year old girl who presented with the typical clinical features of Ellis-van Creveld Syndrome.

Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities, and variable renal, hepatic, pancreatic, and retinal complications. We present eight patients, including two brothers with Jeune syndrome, and an extensive review of 118 cases in the published literature with the purposes of: (1) defining the clinical and radiological diagnostic criteria for Jeune syndrome; (2) comparing our cases to those in the literature meeting the documented clinical and radiological findings of Jeune syndrome, in order to: (3) provide an accurate clinical characterization of Jeune syndrome with frequency of associated complications and outcome data. In order to estimate the frequency of phenotypic abnormalities in Jeune syndrome as precisely as possible, we did not include reports in the literature with incomplete descriptions of the radiologic and clinical findings, nor those reports having additional findings overlapping with other syndromes. We found that the occurrence of renal, hepatic, and ophthalmologic complications is variable; does not correlate with severity of the skeletal phenotype; nor is it predictable even with the presence of a well-defined skeletal phenotype, as in this study. Based upon these cases with Jeune syndrome, renal and hepatic abnormalities occur in approximately 30% of cases, with renal failure occurring in 38% of those with kidney involvement. Eye abnormalities are reported in 15%, but it is unclear whether this represents under-ascertainment. There is a 1.2:1 ratio between living and deceased patients; a respiratory cause of death is most common, occurring almost exclusively in those less than 2 years of age, and a renal etiology accounts for all deaths between the ages of 3-10 years of age. There is a paucity of affected individuals reported in the literature greater than age 20 years, and a lack of longitudinal data to obtain accurate data on morbidity and mortality of Jeune syndrome at older ages. This study provides a well-defined group of patients with Jeune syndrome with delineation of the frequency of associated findings, which may form a basis for current and future genotype-phenotype studies.

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Ellis-van Creveld syndrome (EVCS) is a rare. autosomal recessive disorder. We present a 9-year-old boy who was referred to the dermatology clinic for evaluation of congenital nevi. His history was consistent with the classic tetrad of EVCS. We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early.

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes.

Ellis-van Creveld (EvC) and Curry-Hall (CH) syndromes are rare syndromes that occur due to mutations of genes mapped to the chromosome 4p16 region. Hence, they both have few features that are common. The dental literature describing the oral manifestations and etiology of both syndromes is scarce. We report a case of a 7-year-old girl who appeared with features that are common to both syndromes, as well as with other features such as reduced cranial base flexure and toes of equal length with skeletal changes that have not been mentioned or described in earlier reports. The patient possibly represents a new syndromic entity that has not been reported until now. Further, we present a review of various other similar syndromes, such as various types of orofacial digital (OFD) syndrome and acrofacial dysostosis.