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Disease Profile
Temple-Baraitser syndrome
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
#N/A
ICD-10
#N/A
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)
TMBTS; Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases
Summary
Orpha Number: 420561
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 | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Constipation | 0002019 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
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 |
0002353 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
Long hallux |
Long big toe
|
0001847 |
Long philtrum | 0000343 | |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Myopathic facies | 0002058 | |
0001250 | ||
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
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 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
5%-29% of people have these symptoms | ||
Absent nail of hallux |
Absent big toe nail
Absent nail of big toe
[ more ] |
0012555 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Delayed phalangeal epiphyseal ossification | 0006016 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Everted upper lip vermilion |
Outward turned upper lip
|
0010803 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
High anterior hairline |
High frontal hairline
|
0009890 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypoplastic thumbnail |
Small thumbnail
Underdeveloped thumbnail
[ more ] |
0012553 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short phalanx of the thumb |
Short thumb bone
|
0009660 |
Tented upper lip vermilion | 0010804 | |
Thick nasal alae | 0009928 | |
Triangular shaped distal phalanx of the thumb |
Triangular shaped outermost bone of the thumb
|
0009648 |
Percent of people who have these symptoms is not available through HPO | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
0000006 | ||
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Flat forehead |
Flattened forehead
|
0004425 |
Global developmental delay | 0001263 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
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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