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Disease Profile
Trichothiodystrophy
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
ICD-10
L67.8
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
Categories
Congenital and Genetic Diseases; Male Reproductive Diseases; Skin Diseases
Summary
Orpha Number: 33364
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Abnormality of prenatal development or birth | 0001197 | |
Absence of subcutaneous fat |
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ] |
0007485 |
Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ] |
0002293 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Aplasia/Hypoplasia of the nails |
Absent/small nails
Absent/underdeveloped nails
[ more ] |
0008386 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Bilateral microphthalmos |
Abnormally small eyeball on both sides
|
0007633 |
Bilateral sensorineural hearing impairment | 0008619 | |
Bird-like facies |
Bird-like facial appearance
|
0000320 |
Brittle hair | 0002299 | |
Bronchospasm | 0025428 | |
Disease of the heart muscle
|
0001638 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cerebral dysmyelination | 0007266 | |
Clubbing |
Clubbing of fingers and toes
|
0001217 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Concave nail |
Spoon-shaped nails
|
0001598 |
0007381 | ||
0001363 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Defective |
0003079 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Developmental |
Clouding of the lens of the eye at birth
|
0000519 |
Diffuse cerebellar atrophy | 0100275 | |
Dry skin | 0000958 | |
Difficulty articulating speech
|
0001260 | |
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
Ectropion |
Eyelid turned out
|
0000656 |
Eczema | 0000964 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Fragile nails |
Brittle nails
|
0001808 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Generalized hyperreflexia | 0007034 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Generalized-onset |
0002197 | |
Global |
0001263 | |
Gonadal dysgenesis | 0000133 | |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of mandible relative to maxilla | 0410219 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Ichthyosis | 0008064 | |
Impaired social reciprocity | 0012760 | |
Increased bone mineral density |
Increased bone density
|
0011001 |
Increased mean corpuscular hemoglobin concentration | 0025548 | |
Intention tremor | 0002080 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Low-set nipples | 0002562 | |
Macular degeneration | 0000608 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Multiple joint 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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