Keppen-Lubinsky syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 June 2024

Newly diagnosed with
Keppen-Lubinsky syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.