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Disease Profile

Orofaciodigital syndrome 2

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

OFD2; OFD syndrome 2; Oral-facial-digital syndrome type 2;


Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;


Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet.[1] 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.[2] 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.[1][3]


Although the signs and symptoms that occur in people with OFDS 2 may vary, the following findings may be present[1][4]:

  • Facial findings including nodules (bumps) of the tongue, a split in the lip and/or palate (cleft lip and/or palate), a thickened frenulum (cord of tissue) under the tongue or between the lip and gum, and an unusually wide nasal bridge resulting in widely spaced eyes (dystopia canthorum)
  •  Finger and toe findings including narrow, short fingers and toes (clinobrachydactyly), syndactyly (fused fingers and toes), presence of more than five fingers on hands and/or five toes on feet (polydactyly), and a Y-shaped central metacarpal (bone that connects the fingers to the hands)

Other possible findings include: conductive hearing loss, central nervous system impairments (porencephaly and hydrocephaly), intellectual disabilities, increased susceptibility to respiratory (lung) infections, and heart defects (atrioventricular canal [endocardial cushion] defects).[1][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
30%-79% of people have these symptoms
Abnormal oral frenulum morphology
Accessory oral frenulum
Agenesis of central incisor
Absent central incisor
Bifid nasal tip
Cleft nasal tip
Bifid tongue
Cleft tongue
Split tongue
Forked tongue

[ more ]

Short fingers or toes
Broad first metatarsal
Wide 1st long bone of foot
Broad hallux
Broad big toe
Wide big toe

[ more ]

Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
Complete duplication of hallux phalanx
Complete duplication of big toe bones
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

Finger clinodactyly
Finger syndactyly
Flared metaphysis
Flared wide portion of long bone
Hamartoma of tongue
High palate
Increased palatal height
Elevated palate

[ more ]

Hypoplasia of teeth
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

Lobulated tongue
Bumpy tongue
Malar flattening
Zygomatic flattening
Median cleft lip
Central cleft upper lip
Metaphyseal irregularity
Irregular wide portion of a long bone
Little lower jaw
Small jaw
Small lower jaw

[ more ]

Postaxial foot polydactyly
Extra toe attached near the little toe
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

Preaxial foot polydactyly
Preaxial hand polydactyly
Extra thumb
Short stature
Decreased body height
Small stature

[ more ]

Submucous cleft soft palate
Corners of eye widely separated
Tongue nodules
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

Y-shaped metacarpals
Y-shaped long bone of hand
5%-29% of people have these symptoms
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
Atrioventricular canal defect
Central retinal vessel vascular tortuosity
Cleft palate
Cleft roof of mouth
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
Global developmental delay
Too much cerebrospinal fluid in the brain
Hypoplasia of the epiglottis
Infantile muscular hypotonia
Decreased muscle tone in infant
Mesomelic leg shortening
Pectus excavatum
Funnel chest
Peg-shaped maxillary lateral incisors
Polysyndactyly of hallux
Porencephalic cyst
Cavity within brain
Protruding ear
Prominent ear
Prominent ears

[ more ]

Short tibia
Short shinbone
Short skankbone


OFDS 2 is suspected to be a genetic disorder, given reports of families in which it appears to be inherited in an autosomal recessive inheritance pattern. The causative gene is not known at this time.[5]


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.


    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.[1]


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Orofaciodigital syndrome 2. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • 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 2. Click on the link to view a sample search on this topic.


          1. Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics. 2007; https://www.ncbi.nlm.nih.gov/pubmed/17963220.
          2. Oral-Facial-Digital Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/.
          3. Marie-Paule VAZQUEZ. Orofaciodigital syndrome type 2. Orphanet. November 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751.
          4. Rhouma A, Horneff G. Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. Klin Padiatr. Apr 2014; 226(2):78-79. https://www.ncbi.nlm.nih.gov/pubmed/24643746.
          5. Victor A. McKusick. MOHR SYNDROME. In: Carol A. Bocchini. OMIM. 7/23/2015; https://www.omim.org/entry/252100.

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