ORTHOPEDIC CASES / Chondroectodermal Dysplasia (Ellis–Van Creveld’s Syndrome)

Ellis-van Creveld’s syndrome is characterized by short stature, disproportionate dwarfism, short limbs, polydactyly, and congenital heart disease due to ventricular septal defect. But variable oral findings such as fusion of upper lip to the gingival margin, multiple frenula, abnormally shaped and microdontic teeth, or congenital missing teeth, malocclusion, neonatal teeth, and notching of the lower alveolar process also play an important role in the diagnosis of this syndrome. Absence of clavicles, narrow chest, hypoplastic maxilla, urinary tract anomalies, ichthyoids, plantar keratoderma, and anomalies of hair are associated with this disease.

This syndrome is an autosomal recessive, mainly a generalized disorder of the maturation of enchondral ossification. The link of the Ellis-van Creveld’s syndrome gene to marker HOX7 in a region proximal to the FGFR3 gene is responsible for the achondroplasia phenotype (Figs. 1.20–1.23).