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. More than 60% of patients present with a congenital heart defect (mostly atrial septal defect). Often cleft palate and a prenatal dentition can be observed. Causing mutations have been identified in genes EVC and EVC2 leading to dysfunctions of the intracellular hedgehog signaling pathway. EVC was described in merely 150 cases so far in mostly consanguineous families.
Ellis van Creveld syndrome - summary
| synonyms | Chondroectodermal dysplasia |
| main symptoms |
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| additional findings |
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| manifestation | neonatal |
| frequency | very rare. To date 150 cases have been reported |
| inheritance | autosomal – recessive |
| pathogenesis | Mutations in EVC and EVC2 lead to dysfunction of the hedgehog signalling in primary cilia. This results in impaired development of bones and cartilage. |
| progress and prognosis | Very variable course of disease. Neonatal respiratory distress due to narrow Thorax. |
| treatment | No causal treatment available. A multidisciplinary care is needed. |
Known genes for Ellis Van Creveld syndrome to date
| syndrome | gene | Gene/Locus MIM number | |
| 1 | EVC | EVC | 604831 |
| 2 | EVC2 | EVC2 | 607261 |
sources
- Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012;160C:165–74.
- Otto EA, Schermer B, Obara T, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003;34:413–420.