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Disease Profile
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly 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
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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)
ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; Spastic tetraplegia, thin corpus callosum, and progressive microcephaly;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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 | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
30%-79% of people have these symptoms | ||
Brain atrophy |
Brain degeneration
Brain wasting
[ more ] |
0012444 |
0011451 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Lower limb |
0002061 | |
Motor delay | 0001270 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Postnatal microcephaly | 0005484 | |
5%-29% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Cerebral hypomyelination | 0006808 | |
Clonus | 0002169 | |
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 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Gastrostomy tube feeding in infancy | 0011471 | |
Hair-pulling | 0012167 | |
Hyperactivity |
More active than typical
|
0000752 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypsarrhythmia | 0002521 | |
Infantile spasms | 0012469 | |
Irritability |
Irritable
|
0000737 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Multiple joint |
0002828 | |
Myoclonic spasms | 0003739 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
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 |
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
- The National Organization of Disorders of the Corpus Callosum provides a list of FAQs about disorders of the corpus callosum.
In-Depth Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.