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

Ulna and fibula, hypoplasia of


Other Names:
Hypoplasia of ulna and fibula; Mesomelic dwarfism of hypoplastic ulna and fibula type; Mesomelic dysplasia Reinhardt-Pfeiffer type
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2634

Definition
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.

Epidemiology
Prevalence is unknown but only a few families have been described in the literature so far.

Clinical description
Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described.

Etiology
The syndrome is transmitted in an autosomal dominant manner and cases of this dysplasia have been described in families with Langer mesomelic dwarfism and Léri-Weill dyschondrosteosis (see these terms) leading to the suggestion that this dysplasia, type Reinhardt-Pfeiffer may also be associated with haploinsufficiency of the short stature homeobox (SHOX; Xp22.33 and Yp11.32) gene or anomalies of the downstream pseudoautosomal region 1 (PAR1) where SHOX enhancer elements are located.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2009

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 tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] 		0002992
Disproportionate short stature 0003498
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
Fibular hypoplasia
Short calf bone
0003038
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Micromelia
Smaller or shorter than typical limbs
0002983
Radial head subluxation 0003048
Skin dimple 0010781
Ulnar deviation of finger
Finger bends toward pinky
0009465
30%-79% of people have these symptoms
Synostosis of carpal bones
Fusion of wrist bones
0005048
5%-29% of people have these symptoms
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Neonatal short-limb short stature
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ] 		0008921
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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 Ulna and fibula, hypoplasia of. Click on the link to view a sample search on this topic.

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