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

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Orofaciodigital syndrome 6


Other Names for this Disease

  • Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
  • Joubert syndrome with orofacialdigital anomalies
  • OFD6
  • Oral facial digital syndrome 6
  • Oral facial digital syndrome type 6
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What are the symptoms of orofaciodigital syndrome type 6? How does this syndrome affect adults? What symptoms can I anticipate for my teenage son as he enters adulthood?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is orofaciodigital syndrome type 6?

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

What are the signs and symptoms of orofaciodigital syndrome type 6?

Below we have listed signs and symptoms of orofaciodigital syndrome type 6 that have been reported in the medical literature. Symptom and symptom severity vary from person to person with this syndrome. Some of these symptoms were described in single case reports.[1][2][4][5]

Brain:
  • Dandy-Walker anomaly
  • Partial or complete absence of the cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum and controls balance and coordination) 
  • Absent pituitary gland
  • Heterotopia or polymicrogyria
  • Hypothalamic hamartoma*

*Hypothalamic hamartoma is an abnormal growth in the brain, which in many cases do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. They can also result in precocious (early) puberty.

Hands and feet:

Head and face:

Growth and development:

  • Precocious puberty
  • Short stature
  • Hypotonia (low muscle tone)
  • Psychomotor retardation (meaning speech and thinking are slow)*
  • Oculomotor apraxia (difficulty moving eyes side to side)
  • Seizures

*Most case reports of orofaciodigital syndrome type 6 describe the individuals as having severe psychomotor retardation, however an individual with normal intellect has also been reported. 

Other:

Last updated: 2/17/2010

Are other conditions associated with orofaciodigital syndrome type 6?

Signs and symptoms of orofaciodigital syndrome type 6 can overlap with two other syndromes, Pallister-Hall syndrome and hydrolethalus syndrome. Distinguishing these three syndromes have become easier as the underlying genetic cause of both Pallister-Hall syndrome and hydrolethalus syndrome is now known and testing for these conditions is available.[1][2] The cause of orofaciodigital syndrome type 6 is currently unknown.

GeneTests.org lists laboratories offering clinical genetic testing for Pallister Hall syndrome and for hydrolethalus syndrome. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues.  Talk to your health care provider or a genetic professional to learn more about your testing options. To view the list of testing laboratories click on the disease names above.
Last updated: 2/17/2010

How does orofaciodigital syndrome type 6 affect adults? What symptoms can I anticipate for my teenage son as he enters adulthood?

Currently there is little data regarding symptoms of orofaciodigital syndrome type 6  in adults. In addition, it is difficult to say what the future will hold for a particular individual, since in general, problems associated with orofaciodigital syndrome type 6 can vary greatly from person to person.

You may be interested in learning more about a clinical trial titled, Genetic and Clinical Studies of Congenital Anomaly Syndromes (also known as Phenotype and Etiology of Pallister-Hall Syndrome). Through this trial researchers hope to better delineate the range of severity, natural history (i.e., how this condition affects people over time), and underlying cause of orofaciodigital syndromes and other related disorders.

You can learn more about this trial by clicking on the study title above. The link will take you to ClinicalTrials.gov, a database developed by the U.S. National Institutes of Health, through the National Library of Medicine, to provide patients, family members, and members of the public with current information on clinical research studies.  

After you click the study, review its "eligibility" criteria to determine its appropriateness. Use the study‚Äôs contact information to learn more. Check ClinicalTrials.gov often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if your son is eligible for any clinical trials.  

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

If you are interested in enrolling your son in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

In addition, GeneTests.org lists laboratories offering research genetic testing for orofaciodigital syndrome type VI. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition. Click on GeneTests.org above to view a list of the research laboratories.

Last updated: 2/17/2010

References
Other Names for this Disease
  • Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
  • Joubert syndrome with orofacialdigital anomalies
  • OFD6
  • Oral facial digital syndrome 6
  • Oral facial digital syndrome type 6
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.