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Diseases

Genetic and Rare Diseases Information Center (GARD)

Seckel syndrome


Other Names for this Disease
  • SCKL
  • Nanocephalic dwarfism
  • Seckel-type dwarfism
  • Bird-headed 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, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw.[1] About less than 25% of the patients also have blood abnormalities.[2] Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation ). Treatment is supportive.[1][3][4]
Last updated: 11/9/2015

References

  1. Seckel Syndrome 1. Online Mendelian Inheritance in Man. 2015; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600. Accessed 11/9/2015.
  2. Seckel syndrome. Orphanet. April 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=808. Accessed 11/9/2015.
  3. Verloes A, Drunat S, Gressens P& Passemard S.. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. GeneReviews. October 31, 2013; http://www.ncbi.nlm.nih.gov/pubmed/20301772. Accessed 11/9/2015.
  4. Yigit G & cols. Mutations in CDK5RAP2 cause Seckel syndrome.. Mol Genet Genomic Med. September, 2015; 3(5):467-80. http://www.ncbi.nlm.nih.gov/pubmed/26436113. Accessed 11/9/2015.
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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
  • SCKL
  • Nanocephalic dwarfism
  • Seckel-type dwarfism
  • Bird-headed 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.