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

Microcephaly glomerulonephritis Marfanoid habitus

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

Orpha Number: 2172

Definition
This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.

Epidemiology
It has been described in two sisters.

Genetic counseling
The mode of inheritance is likely to be autosomal recessive.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2006

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
30%-79% of people have these symptoms
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Chronic kidney disease 0012622
Congenital microcephaly 0011451
Disproportionate tall stature 0001519
Glomerulonephritis 0000099
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Intellectual disability, moderate
IQ between 34 and 49
0002342
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Thoracic kyphosis 0002942
Ventriculomegaly 0002119
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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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