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

Dahlberg Borer Newcomer syndrome



Other Names:
Lymphedema hypoparathyroidism syndrome; Hypoparathyroidism lymphedema syndrome
Categories:

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

Orpha Number: 1563

Definition
Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2013

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
Anonychia
Absent nails
Aplastic nails
[ more ]
0001798
Brachydactyly
Short fingers or toes
0001156
Generalized hirsutism
Excessive hairiness over body
0002230
Hypocalcemia
Low blood calcium levels
0002901
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
0000966
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Hypothyroidism
Underactive thyroid
0000821
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Mitral valve prolapse 0001634
Nephropathy 0000112
Short distal phalanx of finger
Short outermost finger bone
0009882
Short stature
Decreased body height
Small stature
[ more ]
0004322
Telecanthus
Corners of eye widely separated
0000506
Thickened skin
Thick skin
0001072
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
0000431
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
5%-29% of people have these symptoms
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ]
0000083
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Hypertrichosis 0000998
Increased carrying angle 0003102
Ptosis
Drooping upper eyelid
0000508
Pulmonary lymphangiectasia 0006521
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Showing of 23 |
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


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.

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 Dahlberg Borer Newcomer syndrome. Click on the link to view a sample search on this topic.

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