Yunis-Varon syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
YVS
related
Yunis Varon Syndrome
exact
Yunis Varon syndrome
exact
Yunis-Varon syndrome
exact
Yunis-Varón syndrome
exact
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
exact
cleidocranial dysplasia-micrognathia-absent thumbs syndrome
exact
SPAC1093.03