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Disease Profile
Orofaciodigital syndrome 6
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.
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Age of onset
Infancy
ICD-10
Q04.3
Inheritance
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 2754
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal oral frenulum morphology | 0000190 | |
0001251 | ||
Bilateral cryptorchidism | 0008689 | |
Biparietal narrowing | 0004422 | |
Short fingers or toes
|
0001156 | |
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 |
Cleft roof of mouth
|
0000175 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties in infancy | 0008872 | |
Finger clinodactyly | 0040019 | |
Frontal bossing | 0002007 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hamartoma of tongue | 0011802 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of olfactory tract | 0007036 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lobulated tongue |
Bumpy tongue
|
0000180 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Low-set, posteriorly rotated ears | 0000368 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Molar tooth sign on |
0002419 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Preaxial |
0100258 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Webbed fingers or toes
|
0001159 | |
Tongue nodules | 0000199 | |
5%-29% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Abnormality of neuronal migration | 0002269 | |
Aplasia/Hypoplasia of the |
0007370 | |
Apnea | 0002104 | |
Central Y-shaped metacarpal |
Y-shaped central long bones of hand
|
0006145 |
Cerebellar vermis hypoplasia | 0001320 | |
Episodic tachypnea | 0002876 | |
Foot polydactyly |
Duplication of bones of the toes
|
0001829 |
Hand polydactyly |
Extra finger
|
0001161 |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Hypothalamic hamartoma | 0002444 | |
Mesoaxial polydactyly | 0100260 | |
Midline notch of upper alveolar ridge | 0009084 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
0001250 | ||
Tremor | 0001337 |
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
-
Joubert Syndrome & Related Disorders Foundation (JSRDF)
9 Dorenfeld CT
Petaluma, CA 94952
Telephone: +1-614-864-1362
E-mail: [email protected]
Website: https://jsrdf.org/
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.
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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.