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Disease Profile

Orofaciodigital syndrome 1

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.

Unknown

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)

OFD1; OFD syndrome 1; Oral-facial-digital syndrome type 1;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Kidney and Urinary Diseases;

Summary

Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys.[1] The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes).[2] Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.[1]

Symptoms

Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palatehypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. The fingers and toes may be short (brachydactyly), webbed or joined together (syndactyly), abnormally curved (clinodactyly), or have other abnormalities. There may be brain abnormalities (such as cysts) and kidney problems (such as polycystic kidney disease). About half of individuals with OFD1 have some degree of learning disability, which is usually mild. Almost all individuals with OFD1 are female.[2]

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
80%-99% of people have these symptoms
Accessory oral frenulum
0000191
Broad alveolar ridges
0000187
Frontal bossing
0002007
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Lobulated tongue
Bumpy tongue
0000180
Median cleft lip
Central cleft upper lip
0000161
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
30%-79% of people have these symptoms
Ataxia
0001251
Bifid tongue
Cleft tongue
Forked tongue
Split tongue

[ more ]

0010297
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Finger syndactyly
0006101
Foot polydactyly
Duplication of bones of the toes
0001829
Hamartoma of tongue
0011802
Hypodontia
Failure of development of between one and six teeth
0000668
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Seizure
0001250
Short toe
Short toes
Stubby toes

[ more ]

0001831
Tongue nodules
0000199
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
5%-29% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Agenesis of corpus callosum
0001274
Alopecia
Hair loss
0001596
Brachydactyly
Short fingers or toes
0001156
Brittle hair
0002299
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Chronic otitis media
Chronic infections of the middle ear
0000389
Coarse hair
Coarse hair texture
0002208
Dandy-Walker malformation
0001305
Dry skin
0000958
Dystonia
0001332
Elevated hepatic transaminase
High liver enzymes
0002910
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hydronephrosis
0000126
Hypertension
0000822
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone

[ more ]

0010669
Lip pit
0100267
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Milia
Milk spot
0001056
Multicystic kidney dysplasia
0000003
Myelomeningocele
0002475
Odontogenic neoplasm
0100612
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth

[ more ]

0010807
Pancreatic cysts
0001737
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Preaxial hand polydactyly
Extra thumb
0001177
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083

Diagnosis

Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected. A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1.[2] 

You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1. 

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

    • 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

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • 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 1. Click on the link to view a sample search on this topic.

        References

        1. Oral-facial-digital syndrome. Genetics Home Reference. February 2010; https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome. Accessed 11/10/2010.
        2. Helga V Toriello, Brunella Franco. Oral-Facial-Digital Syndrome Type 1. GeneReviews. October 14, 2010; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1. Accessed 11/10/2010.

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