Spondylometaphyseal dysplasia with cone-rod dystrophy

Title

Other Names:

SMD-CRD

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: 85167

Disease definition

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

Visit the Orphanet disease page for more resources.

Last updated: 3/22/2007

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
Bowing of the long bones	Bowed long bones Bowing of long bones [ more ]	0006487
Cone/cone-rod dystrophy		0000548
Decreased hip abduction		0003184
Iris hypopigmentation	Light eye color	0007730
Metaphyseal cupping		0003021
Platyspondyly	Flattened vertebrae	0000926
Rhizomelia	Disproportionately short upper portion of limb	0008905
Severe short stature	Dwarfism Proportionate dwarfism Short stature, severe [ more ]	0003510
Spondylometaphyseal dysplasia		0002657
30%-79% of people have these symptoms
Abnormality of color vision	Abnormal color vision	0000551
Abnormality of the ribs	Rib abnormalities	0000772
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
High hypermetropia	Severe farsightedness Severe long-sightedness [ more ]	0008499
Hyperlordosis	Prominent swayback	0003307
Large central visual field defect	Large central loss of field of vision	0001129
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Nyctalopia	Night blindness Night-blindness Poor night vision [ more ]	0000662
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Peripheral visual field loss	Loss of peripheral vision	0007994
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Scoliosis	Abnormal curving of the spine	0002650
Visual loss	Loss of vision Vision loss [ more ]	0000572
5%-29% of people have these symptoms
Limited elbow movement	Decreased elbow mobility Limited elbow mobility Restricted elbow motion [ more ]	0002996
Short palm		0004279
Percent of people who have these symptoms is not available through HPO
Abnormality of macular pigmentation		0008002
Autosomal recessive inheritance		0000007
Brachydactyly	Short fingers or toes	0001156
Coxa vara		0002812
Cupped ribs	Rib cupping	0000887
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Femoral bowing	Bowed thighbone	0002980
Hypoplastic inferior ilia		0008821
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Metaphyseal irregularity	Irregular wide portion of a long bone	0003025
Metaphyseal widening	Broad wide portion of long bone	0003016
Narrow greater sacrosciatic notches		0003375
Ovoid vertebral bodies		0003300
Postnatal growth retardation	Growth delay as children	0008897
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Recurrent otitis media	Recurrent middle ear infection	0000403
Severe platyspondyly		0004565
Short finger	Stubby finger Stubby fingers [ more ]	0009381
Short metacarpal	Shortened long bone of hand	0010049
Tibial bowing	Bowed shankbone Bowed shinbone [ more ]	0002982

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

Last updated: 2/1/2019

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 Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
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.
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 Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you.

European Skeletal Dysplasia Network
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
New Castle upon Tyne
Manchester M13 9PT
NE1 3BZ, United Kingdom
E-mail: info@esdn.org
Website: http://www.esdn.org/eug/Home

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondylometaphyseal dysplasia with cone-rod dystrophy. 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 Spondylometaphyseal dysplasia with cone-rod dystrophy:
International Skeletal Dysplasia Registry (ISDR)

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail: deedee@jhmi.edu
Website: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/

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 Spondylometaphyseal dysplasia with cone-rod dystrophy. Click on the link to view a sample search on this topic.

News & Events News & Events

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NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

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