Yunis Varon Syndrome

Introduction

Yunis-Varon syndrome, also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia, is an extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue, heart and respiratory system.

Symptoms

Yunis–Varon syndrome is characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy.

Causes

Yunis Varon Syndrome is caused by mutations in the FIG4 gene.

Prevalence

Unknown