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Genetic and Rare Diseases Information Center (GARD)

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Orofaciodigital syndrome 2


Other Names for this Disease

  • Mohr syndrome
  • OFD syndrome 2
  • OFD2
  • OFDS 2
  • Oral facial digital syndrome 2
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

I have a pregnant colleague that has been told her unborn child has Mohr syndrome (also known as orofaciodigital syndrome 2). I work in the health care field and have never heard of this disorder. I am looking for credible information that will help me understand this syndrome. I want to be informed.

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 2?

Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) 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. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient.[1]
Last updated: 6/23/2009

What are the signs and symptoms seen in orofaciodigital syndrome type 2?

Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present[1]:

Facial findings
  • Nodules (bumps) of the tongue
  • Cleft lip
  • Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips)
  • Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes)

Finger and toe findings

  • Clinobrachydactyly (narrow, short fingers and toes)
  • Syndactyly (fused fingers and toes)
  • Polydactyly (presence of more than five fingers on hands and/or five toes on feet)
  • Y-shaped central metacarpal (bone that connects the fingers to the hands)

Other possible findings

Last updated: 6/22/2009

What treatment is available for orofaciodigital syndrome type 2?

Treatment is dependent on the symptoms. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities.[1]
Last updated: 6/22/2009

What prognosis is associated with orofaciodigital syndrome type 2?

The prognosis associated with orofaciodigital syndrome type 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 orofaciodigital syndrome type 2. We recommend that you 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: 6/24/2009

What causes orofaciodigital syndrome type 2?

Orofaciodigital syndrome type 2 is caused by mutations (changes) of an as yet unidentified gene.
Last updated: 6/22/2009

How is orofaciodigital syndrome type 2 inherited?

Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition.
Last updated: 6/22/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

How can I find additional information and supportive resources for orofaciodigital syndrome type 2?

Click here to visit the GARD Web page on orofaciodigial syndrome type 2, which contains additional online information resources and support organizations.
Last updated: 6/22/2009

References
  • Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics . 2007;
Other Names for this Disease
  • Mohr syndrome
  • OFD syndrome 2
  • OFD2
  • OFDS 2
  • Oral facial digital syndrome 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.