Rare Hematology News

Disease Profile

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Prevalence
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

#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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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
Intellectual disability
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
Congenital microcephaly
0011451
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Lower limb spasticity
0002061
Motor delay
0001270
Muscular hypotonia
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 seizure
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 contractures
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

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.