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

Spondylometaepiphyseal dysplasia short limb-hand type


Other Names:
SMED-SL; SMED short limb-hand type; SMED type 2; SMED-SL; SMED short limb-hand type; SMED type 2; Spondylometaepiphyseal dysplasia short limb-abnormal calcification type; Smed short limb-abnormal calcification type; Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome; Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93358

Definition
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

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

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
Abnormal calcification of the carpal bones
Abnormal calcification of the wrist bones
0009164
Abnormality of the neck 0000464
Anterior rib cupping 0000907
Atlantoaxial instability 0003467
Autosomal recessive inheritance 0000007
Bell-shaped thorax 0001591
Bowing of the legs
Bowed legs
Bowed lower limbs
[ more ] 		0002979
Broad metacarpals
Wide long bones of hand
0001230
Broad phalanx
Wide digital bones
0006009
C1-C2 subluxation 0003320
Calcification of falx cerebri 0005462
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] 		0008873
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Epiphyseal stippling
Speckled calcifications in end part of bone
0010655
Flared iliac wings 0002869
Flared metaphysis
Flared wide portion of long bone
0003015
Frontal bossing 0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hip subluxation
Partial hip dislocation
0030043
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the odontoid process 0003311
Knee flexion contracture 0006380
Long fibula
Long calf bone
0003085
Malar flattening
Zygomatic flattening
0000272
Metatarsus adductus
Front half of foot turns inward
0001840
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Micromelia
Smaller or shorter than typical limbs
0002983
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Pectus excavatum
Funnel chest
0000767
Platyspondyly
Flattened vertebrae
0000926
Posterior rib cupping 0000922
Progressive calcification of costochondral cartilage 0006600
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Recurrent pneumonia 0006532
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Scoliosis 0002650
Short long bone
Long bone shortening
0003026
Short metacarpal
Shortened long bone of hand
0010049
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short phalanx of finger
Short finger bones
0009803
Short ribs 0000773
Spinal cord compression
Pressure on spinal cord
0002176
Spondyloepimetaphyseal dysplasia 0002651
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Thoracic hypoplasia
Small chest
Small thorax
[ more ] 		0005257
Tracheal calcification 0002787
Triangular shaped distal phalanges of the hand
Triangular shaped outermost bone of the hand
0009875
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Spondylometaepiphyseal dysplasia short limb-hand type. 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 Spondylometaepiphyseal dysplasia short limb-hand type:
    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 Spondylometaepiphyseal dysplasia short limb-hand type. Click on the link to view a sample search on this topic.

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