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Genetic and Rare Diseases Information Center (GARD)

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Seckel syndrome


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.

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Seckel syndrome. We will answer your question and update these pages with new resources and information.

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.