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

Rhizomelic dysplasia Patterson Lowry type


Other Names:
Patterson-Lowry rhizomelic dysplasia; Patterson Lowry syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2831

Definition
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2017

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
Abnormal form of the vertebral bodies 0003312
Brachydactyly
Short fingers or toes
0001156
Coxa vara 0002812
Deformed humeral heads
Deformed head of long bone in upper arm
0005687
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual
[ more ] 		0004097
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Flat face
Flat facial shape
0012368
Genu valgum
Knock knees
0002857
Hyperlordosis
Prominent swayback
0003307
Large face
Big face
0100729
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short humerus
Short long bone of upper arm
Short upper arms
[ more ] 		0005792
Short metacarpal
Shortened long bone of hand
0010049
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] 		0000445
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Platyspondyly
Flattened vertebrae
0000926
Short metatarsal
Short long bone of foot
0010743
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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 Rhizomelic dysplasia Patterson Lowry type. Click on the link to view a sample search on this topic.

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