Synonyms: Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
A rare genetic primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability hypertonia hyperreflexia microcephaly tightly adherent skin an aged appearance severe generalized lipodystrophy and distinct facial dysmorphism which includes large prominent eyes narrow nasal bridge tented upper lip vermilion an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal.
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
Keppen-Lubinsky 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.