Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.