chondroectodermal dysplasia

pathology

Also known as: Ellis–van Creveld syndrome

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Last updated

June 24, 2026

Quick Summary

Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a rare, hereditary congenital disorder. It is inherited in an autosomal recessive pattern.

Individuals with this condition often exhibit:
* Heart abnormalities, which can be life-threatening.
* Extra fingers or toes (polydactyly).
* Dental defects.
* Poorly formed nails.
* Dwarfing, with short limbs.
* Knock-knees and fusion of hand bones.

This disorder is notably more common among the Old Order Amish of Pennsylvania, affecting approximately 5 out of every 1,000 births in that community.1

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dysplasia
Chondroectodermal dysplasia (Ellis–van Creveld syndrome) is a rare congenital disorder; it is hereditary (autosomal recessive). Affected individuals exhibit heart abnormalities (which may cause early death), extra digits, defective dentition, poorly formed nails, dwarfing, and often knock-knees and fusion of hand bones. The disorder is most…
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Chondroectodermal dysplasia (Ellis–van Creveld syndrome) is a rare congenital disorder; it is hereditary (autosomal recessive). Affected individuals exhibit heart abnormalities (which may cause early death), extra digits, defective dentition, poorly formed nails, dwarfing, and often knock-knees and fusion of hand bones. The disorder is most…
Read More