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

Spondyloepimetaphyseal dysplasia X-linked



Other Names:
SEMDX; SEMD X-linked; Spondylo-epimetaphyseal dysplasia
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93349

Definition
A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2018

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
Percent of people who have these symptoms is not available through HPO
Anterior wedging of T11 0004573
Anterior wedging of T12 0011940
Brachydactyly
Short fingers or toes
0001156
Broad long bone diaphyses
Broad shaft of long bone
Wide shaft of long bone
[ more ]
0006371
Broad metacarpals
Wide long bones of hand
0001230
Broad phalanx
Wide digital bones
0006009
Cone-shaped distal radial epiphysis 0004000
Cone-shaped epiphyses fused within their metaphyses
Cone-shaped end part of long bone fused within their wide portion of wide bone
0005066
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Cone-shaped metacarpal epiphyses
Cone-shaped end part of long bone
0006059
Coxa valga 0002673
Delayed ossification of carpal bones 0001216
Disproportionate short-trunk short stature
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ]
0003521
Flared iliac wings 0002869
Flat acetabular roof 0003180
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
0000327
Hypoplasia of the odontoid process 0003311
Kyphosis
Hunched back
Round back
[ more ]
0002808
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
0001377
Long fibula
Long calf bone
0003085
Long ulna 0003988
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Narrow pelvis bone 0003275
Pectus carinatum
Pigeon chest
0000768
Platyspondyly
Flattened vertebrae
0000926
Posterior rib cupping 0000922
Prominent styloid process of ulna 0004981
Radial deviation of the hand 0009486
Short clavicles
Short collarbone
0000894
Short foot
Short feet
Small feet
[ more ]
0001773
Short long bone
Long bone shortening
0003026
Short metacarpal
Shortened long bone of hand
0010049
Short palm 0004279
Short phalanx of finger
Short finger bones
0009803
Spondyloepimetaphyseal dysplasia 0002651
X-linked recessive inheritance 0001419
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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


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondyloepimetaphyseal dysplasia X-linked. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Spondyloepimetaphyseal dysplasia X-linked:
    International Skeletal Dysplasia Registry (ISDR)
     

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 Spondyloepimetaphyseal dysplasia X-linked. Click on the link to view a sample search on this topic.

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