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

Hydrocephalus obesity hypogonadism


Other Names:
Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2183

Definition
This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.

Epidemiology
It has been described in two males from one family.

Genetic counseling
An X-linked recessive mode of inheritance was suggested.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2009

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
100% of people have these symptoms
Cubitus valgus
Outward turned elbows
0002967
Gynecomastia
Enlarged male breast
0000771
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypergonadotropic hypogonadism 0000815
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Low posterior hairline
Low hairline at back of neck
0002162
Mitral valve prolapse 0001634
Obesity
Having too much body fat
0001513
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Abnormality of the hypothalamus-pituitary axis 0000864
Absent facial hair 0002550
Azoospermia
Absent sperm in semen
0000027
Sparse facial hair 0007464
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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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hydrocephalus obesity hypogonadism. Click on the link to view a sample search on this topic.

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