Rajab-Spranger syndrome
| 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.[1]
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 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
- Progressive sensorineural deafness
- Fractures
Physical examination
Neurologic
- Mental retardation - decreased intellectual capacity
Imaging
X-ray
- Slender, undermineralized tubular bones
- Delayed skeletal maturation
- Late-onset dense metaphyseal striations.
References
- ↑ 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
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