National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Diencephalic syndrome


Other Names:
Diencephalic cachexia; Diencephalic syndrome of childhood; Diencephalic syndrome of emaciation; Diencephalic cachexia; Diencephalic syndrome of childhood; Diencephalic syndrome of emaciation; Russell diencephalic cachexia; Russell syndrome See More
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Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. The diencephalon includes the hypothalamus and the thalamus.[1] This condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive), progressive thinness and weakness (emaciation), and hyperactivity and restlessness (hyperkinesia). Other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus.[1][2][3] Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma, dysgerminoma, and ganglioma.[1][3] Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve.[3] Treatment usually involves surgery to remove as much of the tumor as possible, radiation therapy, and chemotherapy.[2]
Last updated: 4/27/2017

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
Abnormality of the hypothalamus-pituitary axis 0000864
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] 		0000708
Cachexia
Wasting syndrome
0004326
Neoplasm of the nervous system
Tumor of the nervous system
0004375
30%-79% of people have these symptoms
Abnormality of movement
Movement disorder
Unusual movement
[ more ] 		0100022
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Long penis
Enlarged penis
0000040
Macrotia
Large ears
0000400
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
5%-29% of people have these symptoms
Large hands
large hand
0001176
Optic atrophy 0000648
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Last updated: 7/1/2020
The prognosis for individuals with diencephalic syndrome differs depending on the type of tumor associated and grade of the tumor. If left untreated, most with this condition will pass away within 12 months. With treatment, the long-term survival is greatly improved; however, even with treatment, the tumor may continue to grow slowly and there may be lasting symptoms related to issues with the hypothalamus and vision.[3][4][5]
Last updated: 4/27/2017

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes gastrointestinal disorders that lead to severe weight loss such celiac disease.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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

  • 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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  1. Paker RJ, Gilbert D, Gilbert J. Diencephalic Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/diencephalic-syndrome/.
  2. Kim A, Moon JS, Yang HR, Chang JY, Ko JS, Seo JK. Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. Korean Journal of Pediatrics. January 2015; v.58(1):28-32. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342778/.
  3. Cohen L. Diencephalic syndrome. Orphanet. October 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=470&Disease_Disease_Search_diseaseGroup=Diencephalic-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Diencephalic-syndrome&title=Diencephalic-syndrome&search=Disease_Search_Simple.
  4. Diencephalic Syndrome. A Kids' Brain Tumor Cure PLGA Foundation. http://akidsbraintumorcure.org/childhood-brain-tumors/brain-tumor-treatment-options/complications/diencephalic-syndrome/. Accessed 4/27/2017.
  5. Kilday JP, Bartels U, Huang A, et al. Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. J Neurooncol. January 2014; 116(1):195-204. https://www.ncbi.nlm.nih.gov/pubmed/24218181.