Ellis-van Creveld syndrome

"Ellis-van Creveld syndrome is a rare skeletal dysplasia which belongs to a 'Short-rib dysplasia group'. It also called Chondroectodermal dysplasia, it an autosomal recessive disease with several allelic variants. The mutation of the gene EVC and EVC2 causing this disease is located on the short arm of chromosome 4.



Prevalence: 1:60,000-200,000, more common among Amish community.


The major anomalies

Short-limb dwarfism (adult measure 100-150 cm)
Narrow chest (pectus carinatum), short ribs
Postaxial polydactyly (both hand and feet)
Dysplastic nails and teeth
Cardiac malformations, 60% of malformations is common atrium

The prenatal diagnosis is possible and is based on the above findings. There may be an increase nuchal translucency associated with the disease at the 1st trimester screening.



Prognosis


Postnatal management mainly includes treatment of the respiratory distress due to narrow chest and heart failure due to the heart anomalies. Prognosis varies and depends on the severity of the respiratory difficulties and heart defect."