Turner syndrome or Ullrich-Turner syndrome, encompassing several conditions, of which monosomy X, a most common
syphilis, a curable sexually transmitted disease caused by the Treponema pallidum spirochete
Trisomy 18 or Edwards Syndrome, a genetic disorder
Cri du Chat syndrome or Cri-du-Chat syndrome, also called deletion 5p syndrome, 5p minus or Lejeune’s syndrome, a rare genetic disorder due to a missing portion of chromosome 5. It, first described by Jérôme Lejeune in 1963
Noonan Syndrome, a relatively common congenital genetic condition which affects both males and females
CHARGE syndrome, a syndrome caused by a genetic disorder
Lujan-Fryns syndrome, also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, a X-linked genetic disorder that causes mild to moderate mental retardation and features described as Marfanoid habitus
Wolf-Hirschhorn syndrome (a genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome))
49,xxxxx syndrome (presence of five X chromosomes (49,xxxxx) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities)
Cornelia de Lange Syndrome aka CdLS, a little known genetic disorder that can lead to severe developmental anomalies
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