Yunis-Varon syndrome

Disease Overview

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability.[11246][11247] Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and is inherited in an autosomal recessive manner.[11248][11249] Treatment is based on the signs and symptoms present in each person.[11246][11249]

Synonyms

• Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
• Yunis-Varón syndrome
• Yunis Varon syndrome