Rahul Sharma

Seckel syndrome

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Specialty  medical genetics
ICD-9-CM  759.89
DiseasesDB  31625
ICD-10  Q87.1
OMIM  210600
MeSH  C537533, C537534, C563881

The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder.

Contents

Inheritance is autosomal recessive.

It is characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability.

A mouse model has been developed.

Genetics

It is supposed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3 related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.

Types include:

Symptoms

Symptoms include:

  • intellectual disability (more than half of the patients have an IQ below 50)
  • microcephaly
  • sometimes pancytopenia (low blood counts)
  • cryptorchidism
  • low birth weight
  • dislocations of pelvis and elbow
  • unusually large eyes
  • low ears
  • small chin
  • History

    The syndrome was named after Helmut Paul George Seckel (American physician, 1900–1960). Harper's syndrome is named after Rita G. Harper.

    References

    Seckel syndrome Wikipedia


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