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 A7


Other Names:
Brachydactyly Smorgasbord type
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: 93397

Definition
Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.

Epidemiology
It has been reported in one family.

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
30%-79% of people have these symptoms
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Hallux valgus
Bunion
0001822
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Short hallux
Short big toe
0010109
5%-29% of people have these symptoms
Absent middle phalanx of 2nd finger
Absent middle bone of index finger
0009576
Broad distal phalanx of the thumb
Broad outermost bone of the thumb
Wide outermost bone of thumb
[ more ] 		0009642
Broad phalanges of the 2nd toe
Broad bones of the 2nd toe
0010348
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Finger symphalangism
Fused finger bones
0009700
Medially deviated second toe 0008096
Radial deviation of the 2nd finger 0009467
Short 2nd finger
Short index finger
Short index fingers
[ more ] 		0009536
Short middle phalanx of the 5th toe
Hypoplastic/small middle phalanx of the 5th toe
Short middle bone of little toe
Short middle bone of pinkie toe
Short middle bone of pinky toe
[ more ] 		0100394
Triangular epiphysis of the middle phalanx of the 2nd finger
Triangular end part of the middle bone of the index finger
0009523
Ulnar deviation of the 2nd finger 0009464
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Last updated: 7/1/2020

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.
  • 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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