Category

Syndromes affecting stature

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Turner syndrome

chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX

Noonan syndrome

congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

Werner syndrome

Lethal autosomal recessive disorder

Cornelia de Lange syndrome

genetic disease

rare genetic disorder with short strature and predisposition to cancer

cat eye syndrome

congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration

Silver-Russell syndrome

growth disorder

Ellis–Van Creveld syndrome

Rothmund-Thomson syndrome

Seckel syndrome

autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability

Hallermann-Streiff syndrome

congenital disorder

Lujan–Fryns syndrome

rare genetic condition in humans

Nijmegen breakage syndrome

Robinow syndrome

syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities

rapadilino syndrome

trichorhinophalangeal syndrome type II

syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta

Abruzzo–Erickson syndrome