Ellis-van Creveld Syndrome

Ellis-van Creveld syndrome is a rare genetic disorder that affects the development of the bones, the formation of the teeth and, in some cases, the heart.

Characteristic features:

• Short stature with short limbs
• Extra fingers on the hands or feet
• Abnormalities of the nails and teeth

Origin: It stems from inherited variants that influence the growth and formation of various tissues from before birth.

When and with whom to have it evaluated? It is usually identified in the early stages of life given the physical features described. Although different professionals are involved depending on the organs affected, the endocrinologist participates in the assessment of growth and development. If there is a family history or suggestive signs, the guidance of a specialist helps in understanding the complete picture.