Orofaciodigital syndrome 2

What causes orofaciodigital syndrome type 2 (OFDS 2)?

****OFDS 2 is suspected to be a genetic disorder, given reports of families in which it appears to be inherited in anautosomal recessive inheritance pattern. The causative gene is not known at this time.

Last updated on 05-01-20

How is orofaciodigital syndrome type 2 (OFDS 2) inherited?

OFDS 2 is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to not be affected and not be a carrier

Last updated on 05-01-20

What is orofaciodigital syndrome type 2?

Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet. It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. Signs and symptoms may include: cleft lip and/or palate, additional or fused fingers or toes (polydactyly or syndactyly), characteristic facial features, and congenital heart defects. Although it is highly suspected that OFDS 2 is genetic, the exact gene that causes the syndrome has not been identified. It is believed to be inherited in an autosomal recessive pattern. Although there is no specific treatment or cure for OFDS 2, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

Last updated on 05-01-20

What is the long-term outlook for orofaciodigital syndrome type 2 (OFDS 2)?

The signs and symptoms associated with OFDS 2 may vary from person to person, even within the same family. Therefore, the challenges faced by one person with the syndrome may be completely different than someone else with OFDS 2. Given the variability of the disorder, it may be useful to speak with the patient's health care provider in order to have a better understanding of the different complications that might arise based on the signs and symptoms present in that patient.

Last updated on 05-01-20

How might orofaciodigital syndrome type 2 (OFDS 2) be treated?

Although there is no one treatment for OFDS 2, there may be ways for a team of specialists to manage the signs and symptoms present in each individual. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities.

Last updated on 05-01-20

Name: About Face International 51 Wolseley Street Toronto, ON M5T 1A4
Phone: +1-416-597-2229 Toll Free: 1-800-665-3223 Fax : +1-416-597-8494 Email: info@aboutface.ca Url: https://www.aboutface.ca/
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Let's Face It University of Michigan School of Dentistry Dentistry Library 1011 North University
Ann Arbor, MI, 48109-1078, United States
Email: faceit@umich.edu Url: http://media.dent.umich.edu/faceit/info/ This website does not appear to be actively updated any longer. However the information and resources may be helpful.
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: contactCCA@ccakids.com Url: https://ccakids.org/
Name: Ameriface PO Box 751112
Las Vegas, NV, 89136, United States
Phone: 702-769-9264 Toll Free: 888-486-1209 Email: info@ameriface.org Url: http://www.ameriface.org
Name: ACPA Family Services 1504 East Franklin Street, Suite 102
Chapel Hill, NC, 27514-2820, United States
Phone: +1-919-933-9044 Fax : +1-919-933-9604 Email: info@acpa-cpf.org Url: https://cleftline.org/

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