Yunis Varon syndrome

Yunis Varon syndrome
Classification and external resources
ICD-10	Q87.8
OMIM	216340
DiseasesDB	33830

Yunis-Varon syndrome (YVS)^[1] is an extremely rare^[2] autosomal recessive^[3] multisystem congenital disorder^[4] which affects the skeletal system, ectodermal tissue and cardiorespiratory systems.

Contents 1 Presentation 2 Genetic prevalence 3 References 4 External links

Presentation

Symptoms include growth retardation before and after birth, defective growth of the bones of the skull along with complete or partial absence of the shoulder blades and characteristic facial features.^[2][5] Additional symptoms may include abnormalities of the fingers and/or toes.^[5][6] In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects.

Genetic prevalence

Yunis-Varon syndrome has an autosomal recessive pattern of inheritance.

This syndrome is inherited as an autosomal recessive genetic trait.^[5][7] The disease has been described relatively recently in the 1980s and since then less than 15 cases have been reported around the world. Many of the infants did not survive beyond one year of age.^[6][7]