Specialty medical genetics OMIM 216340 Orphanet 3472 | ICD-10 Q87.8 DiseasesDB 33830 | |
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Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia, is an extremely rare autosomal recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue, heart and respiratory system.
Contents
Characteristics
Features of YVS 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. Additional symptoms may include abnormalities of the fingers and/or toes. In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects.
Genetics
This syndrome is inherited in an autosomal recessive manner.
Epidemiology
YVS 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.
Treatment
Early intervention is considered important. For infants, breathing and feeding difficulties, are monitored. Therapies used are "symptomatic and supportive."