Chondroectodermal Dysplasia

When a newborn has short stature, extra fingers and abnormalities in nails or teeth, one possibility to investigate is chondroectodermal dysplasia, known as Ellis-van Creveld syndrome.

This is a rare inherited disorder that affects the development of the bones, nails, teeth and, at times, the heart.

Characteristic signs: short stature, short limbs, extra fingers on the hands, altered nails and teeth, and in some cases congenital heart problems.

Common causes: it is caused by a genetic alteration that can be passed down in the family and appears from birth.

Which specialist treats it? The pediatrician coordinates the comprehensive evaluation and referral to specialists according to the organs affected. If a baby has these features, it is advisable to seek an early evaluation to plan appropriate follow-up.