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

Mesomelic dysplasia Savarirayan type


Other Names:
Mesomelic dysplasia with absent fibulas and triangular tibias; Triangular tibia and fibular aplasia
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 85170

Definition
Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2007

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
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ] 		0006487
Broad tibial metaphyses
Broad wide portion of shankbone
Broad wide portion of shinbone
[ more ] 		0006413
Fibular aplasia
Absent calf bone
0002990
Flared radial metaphysis 0004018
Glenoid fossa hypoplasia 0006633
High iliac wings 0008808
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hypoplasia of proximal radius 0006434
Mesomelia
Disproportionately short middle portion of limb
0003027
Metatarsus valgus 0010508
Narrow iliac wings 0002868
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Skeletal dysplasia 0002652
30%-79% of people have these symptoms
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Percent of people who have these symptoms is not available through HPO
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ] 		0001760
Abnormality of the thorax
Abnormality of the chest
0000765
Autosomal dominant inheritance 0000006
Delayed closure of the anterior fontanelle
Later than typical closing of soft spot of skull
0001476
Dislocated radial head 0003083
Global developmental delay 0001263
Short tibia
Short shinbone
Short skankbone
[ more ] 		0005736
Talipes equinovalgus 0001772
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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 Mesomelic dysplasia Savarirayan type. Click on the link to view a sample search on this topic.

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