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  3. Spondyloepimetaphyseal dysplasia with multiple dislocations
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Spondyloepimetaphyseal dysplasia with multiple dislocations


Title




Other Names:
Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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

Orpha Number: 93360

Definition
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

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

Symptoms Symptoms


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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.

Showing of 60 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal calcification of the carpal bones
Abnormal calcification of the wrist bones
0009164
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
Flat capital femoral epiphysis
Flat end part of innermost thighbone
0003370
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ]
0002827
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphosis
Hunched back
Round back
[ more ]
0002808
Malar flattening
Zygomatic flattening
0000272
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Micromelia
Smaller or shorter than typical limbs
0002983
Platyspondyly
Flattened vertebrae
0000926
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ]
0004322
Skeletal dysplasia 0002652
Slender metacarpals
Slender long bones of hand
0006236
30%-79% of people have these symptoms
Abnormal patella morphology
Abnormal kneecap
0003045
Abnormal sacrum morphology 0005107
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Enlarged thorax
Wide rib cage
0100625
Frontal bossing 0002007
Genu valgum
Knock knees
0002857
Global developmental delay 0001263
Laryngeal stenosis 0001602
Laryngotracheomalacia 0008755
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Nail dysplasia
Atypical nail growth
0002164
Osteoarthritis
Degenerative joint disease
0002758
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
5%-29% of people have these symptoms
Genu varum
Outward bow-leggedness
Outward bowing at knees
[ more ]
0002970
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Muscular hypotonia
Low or weak muscle tone
0001252
Pes planus
Flat feet
Flat foot
[ more ]
0001763
Short neck
Decreased length of neck
0000470
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Broad distal phalanx of finger
Broad outermost finger bone
0009836
Carpal bone hypoplasia
Small carpal bones
Small carpals
[ more ]
0001498
Caudal interpedicular narrowing 0008457
Congenital hip dislocation
Dislocated hip since birth
0001374
Delayed patellar ossification 0006454
Delayed phalangeal epiphyseal ossification 0006016
Dislocated radial head 0003083
Flared metaphysis
Flared wide portion of long bone
0003015
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ]
0003090
Irregular epiphyses
Irregular end part of long bone
0010582
Irregular vertebral endplates 0003301
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
0001388
Large joint dislocations 0005008
Long distal phalanx of finger
Long outermost bone of finger
0012299
Long proximal phalanx of finger
Long innermost finger bone
0006127
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Narrow femoral neck
Narrow neck of thigh bone
0008819
Posterior scalloping of vertebral bodies 0005121
Slender distal phalanx of finger
Slender outermost bone of finger
0012296
Slender proximal phalanx of finger
Slender innermost bone of finger
0012297
Small epiphyses
Small end part of bone
0010585
Soft skin 0000977
Spinal dysraphism 0010301
Spondyloepimetaphyseal dysplasia 0002651
Streaky metaphyseal sclerosis
Streak increase in bone density in wide portion of wide bone
0005092
Showing of 60 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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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 with multiple dislocations. 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 with multiple dislocations:
    International Skeletal Dysplasia Registry (ISDR)
     

Learn More Learn More


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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 with multiple dislocations. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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