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

Brachydactyly type A6


Other Names:
BDA6; Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; Osebold-Remondini syndrome
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93382

Definition
Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2008

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] 		0000925
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ] 		0009843
Autosomal dominant inheritance 0000006
Bipartite calcaneus 0008127
Broad finger
Broad fingers
Wide fingers
[ more ] 		0001500
Broad toe
Wide toe
0001837
Carpal synostosis 0009702
Decreased finger mobility
Decreased finger movement
0006135
Dysplastic distal radial epiphyses 0005013
Fibular hypoplasia
Short calf bone
0003038
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Mesomelia
Disproportionately short middle portion of limb
0003027
Radial deviation of finger 0009466
Short phalanx of finger
Short finger bones
0009803
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Short tibia
Short shinbone
Short skankbone
[ more ] 		0005736
Short toe
Short toes
Stubby toes
[ more ] 		0001831
Tarsal synostosis
Fused ankle bones
0008368
Type A brachydactyly 0009370
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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

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The University of California San Francisco Limb Study is researching the genetic causes of limb malformations. They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, extra long fingers, flexed fingers, club foot, etc. Visit the study’s website to learn more about who is eligible to take part in this study.

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 Brachydactyly type A6. Click on the link to view a sample search on this topic.

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