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Diseases

Genetic and Rare Diseases Information Center (GARD)

Seckel syndrome


Other Names for this Disease
  • Bird-headed dwarfism
  • Nanocephalic dwarfism
  • SCKL
  • Seckel-type dwarfism
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Overview

Seckel syndrome is a genetic disorder characterized by growth retardation, microcephaly with mental retardation, and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw.[1] Blood abnormalities with chromosome breakage may be present in less than 25% of individuals who have Seckel syndrome.[2] The signs and symptoms of Seckel syndrome may be similar to those of another condition called microcephalic osteodysplastic primordial dwarfism type II (MOPD II); however, MOPD II is associated with abnormalities of the bones, which can be identified by performing X-rays during the first years of life.[1][2]

Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be called Seckel syndrome type 1 when it is caused by a mutation in the SCKL1 gene, Seckel syndrome type 2 when caused by a mutation in the SCKL2 gene, and Seckel syndrome type 3 when caused by a mutation in the SCKL3 gene.[1]
Last updated: 3/10/2010

References

  1. Seckel Syndrome 1. Online Mendelian Inheritance in Man. September 16, 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600. Accessed 3/10/2010.
  2. Seckel syndrome. Orphanet. April 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=808. Accessed 3/10/2010.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Seckel syndrome type 1
    Seckel syndrome type 2
    Seckel syndrome type 3
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Seckel syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Bird-headed dwarfism
  • Nanocephalic dwarfism
  • SCKL
  • Seckel-type dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.