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

Daneman Davy Mancer syndrome



Other Names:
Multinodular goiter, cystic renal disease, and digital anomalies; MNG/CRD/DA; Multinodular goiter - cystic kidney - polydactyly; Multinodular goiter, cystic renal disease, and digital anomalies; MNG/CRD/DA; Multinodular goiter - cystic kidney - polydactyly; Thyroid-renal-digital anomalies See More
Categories:

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

Orpha Number: 2091

Definition
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.

Epidemiology
It has been described in two sibs and one unrelated child.

Clinical description
The two sibs had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families.

Genetic counseling
This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2010

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
Multicystic kidney dysplasia 0000003
Multinodular goiter 0005987
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
0001162
Preaxial foot polydactyly 0001841
Triphalangeal thumb
Finger-like thumb
0001199
Percent of people who have these symptoms is not available through HPO
Abnormality of the genitourinary system 0000119
Autosomal dominant inheritance 0000006
Bilateral triphalangeal thumbs 0005707
Renal cyst
Kidney cyst
0000107
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Daneman Davy Mancer syndrome. Click on the link to view a sample search on this topic.

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