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Orofaciodigital syndrome 6


Other Names for this Disease
  • Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
  • Joubert syndrome with oral-facial-digital syndrome
  • Joubert syndrome with orofacialdigital anomalies
  • Joubert syndrome with orofaciodigital defect
  • OFD6
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Overview

Orofaciodigital syndrome type 6 is one of the 13 types of orofaciodigital syndrome. Orofaciodigital syndromes refers to conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. Each type is distinguished by additional unique signs and symptoms. Cerebellar defects and a central Y-shaped or forked metacarpal are symptoms unique to type 6.[1][2]    Some individuals with orofaciodigital syndrome 6 have a brain finding called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI).  The molar tooth sign is a hallmark feature of Joubert syndrome, thus orofaciodigital syndrome type 6 may be a subtype of Joubert syndrome.[3] It is inherited autosomal recessive fashion. [1]
Last updated: 2/10/2011

References

  1. Oral-Facial-Digital Syndromes (OFDS) Research Study. National Human Genome Research Institute. 2009; http://www.genome.gov/27529974. Accessed 2/17/2010.
  2. Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics . 2007;
  3. Brancati, Francesco, et.al.. Orphanet Journal of Rare Diseases. 2010; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913941/pdf/1750-1172-5-20.pdf. Accessed 2/1/2011.
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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. 
  • 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 Orofaciodigital syndrome 6. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
  • Joubert syndrome with oral-facial-digital syndrome
  • Joubert syndrome with orofacialdigital anomalies
  • Joubert syndrome with orofaciodigital defect
  • OFD6
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.