Rajab-Spranger syndrome

Rajab-Spranger syndrome
ICD-10	Q87.1
OMIM	608154

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Lipodystrophy-mental retardation-deafness

Overview

Rajab-Spranger syndrome is characterized by the association of generalized congenital lipodystrophy, in early childhood, intellectual deficit, and skeletal manifestations

Pathophysiology

The syndrome has been described in three patients from two families of the same ethnic origin. The parents of two of the patients were consanguineous, suggesting autosomal recessive inheritance.