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Disease Profile
Orofaciodigital syndrome 14
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.
#N/A
Age of onset
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ICD-10
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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)
Orofaciodigital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome; Oral-facial-digital syndrome type 14;
Summary
Orpha Number: 434179
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 facial shape |
Unusual facial appearance
|
0001999 |
Abnormal myelination | 0012447 | |
Accessory oral frenulum | 0000191 | |
Aplasia of the epiglottis | 0008753 | |
Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ] |
0010297 |
Bilateral cryptorchidism | 0008689 | |
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Bulbous nose | 0000414 | |
Cleft roof of mouth
|
0000175 | |
Dandy-Walker malformation | 0001305 | |
Deviation of the hallux |
Displacement of big toe
|
0010051 |
Dilated third ventricle | 0007082 | |
Duplication of big toe bone
Duplication of great toes
[ more ] |
0010066 | |
Epispadias | 0000039 | |
Gastrostomy tube feeding in infancy | 0011471 | |
Global |
0001263 | |
Hamartoma of tongue | 0011802 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] |
0011069 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lobulated tongue |
Bumpy tongue
|
0000180 |
Low-set, posteriorly rotated ears | 0000368 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microretrognathia |
Small retruded chin
|
0000308 |
Molar tooth sign on |
0002419 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Open operculum | 0100954 | |
Partial agenesis of the corpus callosum | 0001338 | |
Patent ductus arteriosus | 0001643 | |
Periventricular heterotopia | 0007165 | |
Postaxial foot |
Extra toe attached near the little toe
|
0001830 |
Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Retinal coloboma |
Hole in the back of the eye
|
0000480 |
Short neck |
Decreased length of neck
|
0000470 |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Webbed neck |
Neck webbing
|
0000465 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Anteriorly placed anus | 0001545 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
0000007 | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
0410030 | ||
Symptoms present at birth
|
0003577 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Holoprosencephaly | 0001360 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Optic nerve coloboma |
Learn moreThese 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
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