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

Fibular aplasia ectrodactyly


Other Names:
Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1118

Definition
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.

Visit the Orphanet disease page for more resources.
Last updated: 8/1/2019

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
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
30%-79% of people have these symptoms
Abnormality of the ulna 0002997
Aplasia/Hypoplasia of the fibula
Absent/small calf bone
Absent/underdeveloped calf bone
[ more ] 		0006492
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Brachydactyly
Short fingers or toes
0001156
Fibular aplasia
Absent calf bone
0002990
Incomplete penetrance 0003829
Short phalanx of finger
Short finger bones
0009803
Split foot
Lobster-claw foot deformity
Split-foot
[ more ] 		0001839
Variable expressivity 0003828
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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 Fibular aplasia ectrodactyly. Click on the link to view a sample search on this topic.

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