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Diseases

Genetic and Rare Diseases Information Center (GARD)

Lujan syndrome


Other Names for this Disease
  • Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies
  • Lujan-Fryns syndrome
  • X-linked intellectual disability with marfanoid habitus
  • X-linked mental retardation with marfanoid habitus
  • XLMR with marfanoid habitus
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Overview

Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.[1][2]
Last updated: 11/10/2015

References

  1. Lyons MJ. MED12-Related Disorders. GeneReviews. June 6, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1676/. Accessed 10/15/2015.
  2. Lujan syndrome. Genetics Home Reference. December, 2012; http://ghr.nlm.nih.gov/condition/lujan-syndrome. Accessed 10/15/2015.
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Basic Information

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. 
  • 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 Lujan syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies
  • Lujan-Fryns syndrome
  • X-linked intellectual disability with marfanoid habitus
  • X-linked mental retardation with marfanoid habitus
  • XLMR with marfanoid habitus
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.