SHORT syndrome

A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.

Glaucoma

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

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PMID (PMCID)
23980586	MIXED_SAMPLE
	PIK3R1 mutations in SHORT syndrome.
	Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Dobler-Neumann M, Wieser S, Moog U, Tzschach A. Clin Genet. 2014;86(3):292-4.
	SHORT syndrome (OMIM 269880) is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (Rieger anomaly, posterior embryotoxon, glaucoma), teething delay, partial lipodystrophy, insulin resistance and facial dysmorphic signs.