Rajab-Spranger syndrome: Difference between revisions
No edit summary |
No edit summary |
||
| Line 25: | Line 25: | ||
* [[Cockayne syndrome]] through normal DNA repair after UV exposure | * [[Cockayne syndrome]] through normal DNA repair after UV exposure | ||
* A/C laminopathy through the absence of mutations in the lamin A/C gene. | * A/C laminopathy through the absence of mutations in the lamin A/C gene. | ||
==Natural History, Complications, Prognosis== | |||
The functional prognosis of these patients is depends on their intellectual development. Bone fractures must be diagnosed early and treated. This affection is not life-threatening in the first decades of life. | |||
Revision as of 19:20, 27 July 2012
| Rajab-Spranger syndrome | |
| ICD-10 | Q87.1 |
|---|---|
| OMIM | 608154 |
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.
Differentiating from other diseases
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.
Natural History, Complications, Prognosis
The functional prognosis of these patients is depends on their intellectual development. Bone fractures must be diagnosed early and treated. This affection is not life-threatening in the first decades of life.