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Seckel syndrome

Tuesday 17 August 2004

Seckel syndrome is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders.

Seckel syndrome was described as the prototype of the primordial bird-head type of dwarfism.


- neonatal hepatitis (16808631)
- central nervous system anomalies

  • agenesis of corpus callosum
  • cerebral cyst
  • primitive convolutional pattern


- increased instability at common chromosomal fragile sites in cells lacking the replication checkpoint gene ATR
- increased chromosome breakage following replication stress
- greater chromosomal instability, particularly at fragile sites, in SCKL1-affected patient cells after treatment with aphidicolin, an inhibitor of DNA polymerase alpha and other polymerases


- Locus SCKL1 at 3q22-q24: ATR (ataxia-telangiectasia and Rad3-related protein)
- Locus SCKL2 at 18p11-q11 (MIM.606744)
- Locus SCKL3 at 14q (MIM.608664).