Rajab-Spranger syndrome

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

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

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.^[1]

Rajab-Spranger syndrome differs from

• SHORT syndrome by the absence of Rieger anomaly and joint hyperlaxity
• Cockayne syndrome through normal DNA repair after UV exposure
• A/C laminopathy through the absence of mutations in the lamin A/C gene.

The functional prognosis of these patients depends on their intellectual development. Bone fractures must be diagnosed early and treated. This disease is not life-threatening in the first decades of life.

• Progressive sensorineural deafness
• Fractures

• Mental retardation – decreased intellectual capacity

• Slender, undermineralized tubular bones
• Delayed skeletal maturation
• Late-onset dense metaphyseal striations.

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