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Disease Profile

Orofaciodigital syndrome 2

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.0

Inheritance

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

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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

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X-linked
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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

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

Categories

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

Summary

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]

Symptoms

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:
HPO ID
30%-79% of people have these symptoms
Abnormal oral frenulum morphology
0000190
Accessory oral frenulum
0000191
Agenesis of central incisor
Absent central incisor
0006289
Bifid nasal tip
Cleft nasal tip
0000456
Bifid tongue
Cleft tongue
Split tongue
Forked tongue

[ more ]

0010297
Brachydactyly
Short fingers or toes
0001156
Broad first metatarsal
Wide 1st long bone of foot
0010068
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
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 ]

0000455
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Complete duplication of hallux phalanx
Complete duplication of big toe bones
0010100
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
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 ]

0005280
Finger clinodactyly
0040019
Finger syndactyly
0006101
Flared metaphysis
Flared wide portion of long bone
0003015
Hamartoma of tongue
0011802
High palate
Increased palatal height
Elevated palate

[ more ]

0000218
Hypoplasia of teeth
0000685
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 ]

0000327
Lobulated tongue
Bumpy tongue
0000180
Malar flattening
Zygomatic flattening
0000272
Median cleft lip
Central cleft upper lip
0000161
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Preaxial foot polydactyly
0001841
Preaxial hand polydactyly
Extra thumb
0001177
Short stature
Decreased body height
Small stature

[ more ]

0004322
Submucous cleft soft palate
0011819
Telecanthus
Corners of eye widely separated
0000506
Tongue nodules
0000199
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 ]

0000431
Y-shaped metacarpals
Y-shaped long bone of hand
0006042
5%-29% of people have these symptoms
Apnea
0002104
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Atrioventricular canal defect
0006695
Central retinal vessel vascular tortuosity
0007768
Cleft palate
Cleft roof of mouth
0000175
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Global developmental delay
0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the epiglottis
0005349
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Mesomelic leg shortening
0004987
Pectus excavatum
Funnel chest
0000767
Peg-shaped maxillary lateral incisors
0006342
Polysyndactyly of hallux
0005873
Porencephalic cyst
Cavity within brain
0002132
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Scoliosis
0002650
Short tibia
Short shinbone
Short skankbone

Cause

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]

Diagnosis

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.

    Treatment

    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]

    Organizations

    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.

          References

          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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