Keppen-Lubinsky syndrome

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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 Data version June 2024

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Keppen-Lubinsky syndrome?

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