Yunis-Varon syndrome

Yunis-Varon syndrome is a rare condition present from birth that affects many parts of the body. People with this condition may have unique physical features such as underdeveloped or absent collarbones, large soft spots on the head (fontanelles), distinct facial characteristics, and differences in their fingers and toes. The condition can also cause issues with muscle tone, feeding, breathing, and may affect brain development and heart function. Because the symptoms vary widely, the impact on each person’s health and development can differ. This overview is based on well-established sources and genetic insights related to the syndrome.

Common signs and symptoms include underdeveloped or missing collarbones, large fontanelles, and characteristic facial features. Other symptoms can involve reduced muscle tone, abnormalities of the fingers and toes, feeding and breathing difficulties, brain malformations, heart defects, skeletal abnormalities, developmental delay, and intellectual disability.

Yunis-Varon syndrome is caused by changes in the FIG4 gene. The condition is inherited in an autosomal recessive manner, meaning that a child needs to get a copy of the changed gene from each parent. This genetic cause is a key factor in the development of the syndrome.

Treatment for Yunis-Varon syndrome is based on the individual signs and symptoms present in each person. Healthcare providers may manage various symptoms such as feeding difficulties, breathing problems, and other complications to improve quality of life.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.