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, tibial campomelia, and oligosyndactyly syndrome


Other Names:
FATCO syndrome; Terminal transverse defects of the limbs associated with congenital heart malformations; Hecht-Scott syndrome; FATCO syndrome; Terminal transverse defects of the limbs associated with congenital heart malformations; Hecht-Scott syndrome; Limb deficiency-heart malformation syndrome; Fibular aplasia-tibial campomelia-oligosyndactyly syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2492

Definition
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2018

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
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] 		0002992
Absent hand 0004050
30%-79% of people have these symptoms
Abnormality of the cardiovascular system
Cardiovascular abnormality
0001626
Finger syndactyly 0006101
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Respiratory insufficiency
Respiratory impairment
0002093
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Tarsal synostosis
Fused ankle bones
0008368
Percent of people who have these symptoms is not available through HPO
Abnormality of the hand
Abnormal hands
Hand anomalies
Hand deformities
[ more ] 		0001155
Autosomal dominant inheritance 0000006
Fibular aplasia
Absent calf bone
0002990
Foot oligodactyly
Missing toes
0001849
Hand oligodactyly
Hand has less than 5 fingers
0001180
Short tibia
Short shinbone
Short skankbone
[ more ] 		0005736
Sporadic
No previous family history
0003745
Syndactyly
Webbed fingers or toes
0001159
Tibial bowing
Bowed shankbone
Bowed shinbone
[ more ] 		0002982
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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

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, tibial campomelia, and oligosyndactyly syndrome. Click on the link to view a sample search on this topic.

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