Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

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).

Total: 2

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PMID (PMCID)
24908534	MALE
	Mucopolysaccharidosis type II with inguinal hernia.
	Rayamajhi A, Pokharel PJ, Chapagain R, Rayamajhi AK. J Nepal Health Res Counc. 2013;11(25):293-5.
	In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis multiplex on X-ray with unusual large congenital inguinal hernia.
8165905	MIXED_SAMPLE	Infant
	Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases.
	Imaizumi M, Gushi K, Kurobane I, Inoue S, Suzuki J, Koizumi Y, Suzuki H, Sato A, Gotoh Y, Haginoya K, et al.. Acta Paediatr Jpn. 1994;36(1):30-6.
	Patients with Maroteaux-Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, joint contractures, short stature and tight skin, and this greatly increased their quality of life.