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

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

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

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 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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 6/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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 Genetics Home Reference.

Research Research

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

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

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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