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Symmetrical thalamic calcifications


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1314

Definition
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.

Epidemiology
It is an extremely rare condition, with about 30 cases described in the literature.

Diagnostic methods
The calcifications are revealed by computed tomography scanning.

Prognosis
The prognosis is very poor.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2006

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ataxia 0001251
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
EEG abnormality 0002353
Reduced tendon reflexes 0001315
Respiratory insufficiency
Respiratory impairment
0002093
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Weak cry 0001612
30%-79% of people have these symptoms
Abnormality of neuronal migration 0002269
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Polyhydramnios
High levels of amniotic fluid
0001561
Seizure 0001250
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Last updated: 7/1/2020

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.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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