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Disease Profile

Orofaciodigital syndrome 4

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)

OFD4; Orofaciodigital syndrome with tibial dysplasia; Baraitser-Burn syndrome;

Categories

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

Summary

Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).[1] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion.[2][3] The condition appears to be caused by mutations in the tectonic family member 3 gene (TCTN3).[3]

Symptoms

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
Abnormal oral frenulum morphology
0000190
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue

[ more ]

0000496
Abnormality of the gingiva
Abnormality of the gums
0000168
Abnormality of the tongue
Abnormal tongue
Tongue abnormality

[ more ]

0000157
Absent testis
Absent testes
0010469
Aplasia/Hypoplasia of the tibia
Absent/small shankbone
Absent/small shinbone
Absent/underdeveloped shankbone
Absent/underdeveloped shinbone

[ more ]

0005772
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Finger syndactyly
0006101
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Global developmental delay
0001263
Hamartoma
0010566
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

0001373
Laryngomalacia
Softening of voice box tissue
0001601
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Median cleft lip
Central cleft upper lip
0000161
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micromelia
Smaller or shorter than typical limbs
0002983
Microtia, third degree
0011267
Monorchism
0030868
Oligohydramnios
Low levels of amniotic fluid
0001562
Oral synechia
0010285
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Preaxial hand polydactyly
Extra thumb
0001177
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Specific learning disability
0001328
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445
30%-79% of people have these symptoms
Bifid uvula
0000193
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cerebral cortical hemiatrophy
0100308
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171
Subcortical cerebral atrophy
0012157
Submucous cleft hard palate
0000176
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Absent crus of helix
0011255
Anal atresia
Absent anus
0002023
Bilateral lung agenesis
Absent lungs
0005944
Hypoplastic toenails
Underdeveloped toenails
0001800
Perineal fistula
0004871
Primary adrenal insufficiency

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 4. 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 4. Click on the link to view a sample search on this topic.

        References

        1. Oral-facial-digital syndrome. Genetics Home Reference (GHR). February 2010; https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome. Accessed 3/23/2013.
        2. Vazquez MP. Oral-facial-digital syndrome type 4. Orphanet. November 2009; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2509. Accessed 3/23/2013.
        3. Orofaciodigital Syndrome IV. Online Mendelian Inheritance in Man (OMIM). September 2012; https://omim.org/entry/258860. Accessed 3/23/2013.

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