Synonyms: Lipodystrophy-Rieger anomaly-diabetes syndrome | Rieger anomaly-partial lipodystrophy 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
SHORT syndrome?
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Advocacy Organizations
Lipodystrophy United
Our mission is to provide an interactive community, facilitated support, and education for anyone affected by lipodystrophy. We serve as a resource to increase awareness in the general, medical, and insurance communities. We advocate for new patient diagnosis by assisting healthcare professionals in understanding trends, physical attributes, and clinical symptoms to aid treatment and research.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.