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 A1


Other Names:
BDA1; Brachydactyly Farabee 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: 93388

Definition
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

Epidemiology
Only a few pedigrees have been reported in the literature.

Clinical description
The proximal phalanges of the thumbs and big toes are short. BDA1 patients tend to be of short stature in adulthood.

Etiology
BDA1 may be caused by mutations in the Indian hedgehog gene (IHH) located on chromosome 2q35-36. Another locus for this phenotype has been identified on chromosome 5p13.3-p13.2.

Genetic counseling
BDA1 is inherited as an autosomal dominant trait.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2008

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
80%-99% of people have these symptoms
Short foot
Short feet
Small feet
[ more ] 		0001773
Short hallux
Short big toe
0010109
Short middle phalanx of finger
Short middle bone of finger
0005819
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Short thumb
Short thumbs
Small thumbs
[ more ] 		0009778
30%-79% of people have these symptoms
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
5%-29% of people have these symptoms
Broad metacarpals
Wide long bones of hand
0001230
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Distal symphalangism of hands
Fused outermost bones of hand
0001204
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Scoliosis 0002650
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Percent of people who have these symptoms is not available through HPO
Absent distal interphalangeal creases 0001032
Autosomal dominant inheritance 0000006
Brachydactyly
Short fingers or toes
0001156
Broad metacarpal epiphyses
Broad end part of long bone of hand
0006146
Broad palm
Broad hand
Broad hands
Wide palm
[ more ] 		0001169
Flattened metatarsal heads
Flattened head of long bone of foot
0005194
Proportionate shortening of all digits 0006165
Radial deviation of the 2nd finger 0009467
Radial deviation of the 3rd finger
Inward turned middle finger
0009462
Radial deviation of the 4th finger 0009279
Short distal phalanx of finger
Short outermost finger bone
0009882
Short metacarpal
Shortened long bone of hand
0010049
Short palm 0004279
Short proximal phalanx of hallux
Short innermost big toe bone
0010107
Short proximal phalanx of thumb 0009638
Slender metacarpals
Slender long bones of hand
0006236
Thin proximal phalanges with broad epiphyses of the hand
Thin innermost bone with broad end part of the hand bone
0006213
Showing of 29 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 A1. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

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