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

Humeroradial synostosis


Other Names:
Humero-radial fusion; Humero-radial synostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3265

Definition
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2018

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
Elbow ankylosis 0003070
30%-79% of people have these symptoms
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
5%-29% of people have these symptoms
Abnormality of the wrist
Abnormalities of the wrists
0003019
Aplasia/Hypoplasia affecting the eye
Absent/small eye
Absent/underdeveloped eye
[ more ] 		0008056
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb
[ more ] 		0009601
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Iris coloboma
Cat eye
0000612
Meningocele 0002435
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Tarsal synostosis
Fused ankle bones
0008368
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Last updated: 7/1/2020

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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