Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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(per page)
PMID (PMCID)
25928000
(4432946)
MALE Child
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
Li C, Chen R, Fan X, Luo J, Qian J, Wang J, Xie B, Shen Y, Chen S.
BMC Med Genet. 2015;16:23.
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.