Orofaciodigital syndrome 6
- 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
Your QuestionWhat 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is orofaciodigital syndrome type 6?
- What are the signs and symptoms of orofaciodigital syndrome type 6?
- Are other conditions associated with orofaciodigital syndrome type 6?
- How does orofaciodigital syndrome type 6 affect adults? What symptoms can I anticipate for my teenage son as he enters adulthood?
- 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)
*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.
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.
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’s 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
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.
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:
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.
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.
- Oral-Facial-Digital Syndromes (OFDS) Research Study. National Human Genome Research Institute. 2009; http://www.genome.gov/27529974. Accessed 2/17/2010.
- Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics . 2007;
- 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.
- Takanashi J et al.,. Malformations of Cerebral Cortical Development in Oral-Facial-Digital syndrome type VI. AJNR. 2009;
- Orofaciodigital syndrome VI; OFD6. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277170. Accessed 2/17/2010.