Yunis-Varon syndrome

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Yunis Varon syndrome Classification and external resources
ICD-10	Q87.8
ICD-9	xxx
OMIM	216340
DiseasesDB	33830

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

[edit] 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.^[1][4] Additional symptoms may include abnormalities of the fingers and/or toes.^[4][5] In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects.

[edit] Genetic prevalence

This syndrome is inherited as an autosomal recessive genetic trait.^[4][6] The disease has been described relatively recently in the 1980's 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]

[edit] References

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7) Facial Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia Short stature Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome Limbs Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association Overgrowth Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome Collagen Alport syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome