Rajab-Spranger syndrome

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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.[1]

Differentiating from other diseases

Rajab-Spranger syndrome differs from

Natural History, Complications, Prognosis

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.

Diagnosis

Symptoms

Physical examination

Neurologic

  • Mental retardation - decreased intellectual capacity

Imaging

X-ray

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

References

  1. Rajab A, Khaburi M, Spranger S, Kunze J, Spranger J (2003). "Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?". Am. J. Med. Genet. A. 121A (3): 271–6. doi:10.1002/ajmg.a.20245. PMID 12923870. Unknown parameter |month= ignored (help)



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