Yunis-Varon syndrome
Yunis-Varon syndrome
Definition
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. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, cleidocranial dysplasia-micrognathia-absent thumbs syndrome, Yunis Varon Syndrome, Yunis-Varon syndrome — per MONDO