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  1. Home
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  3. Spondylometaphyseal dysplasia Sedaghatian type
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Spondylometaphyseal dysplasia Sedaghatian type


Title




Other Names:
Lethal metaphyseal dysplasia
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: 93317

Definition
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

Epidemiology
Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin.

Clinical description
A lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy.

Etiology
Etiology remains unknown.

Genetic counseling
Autosomal recessive inheritance has been suggested.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2009

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 53 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal scapula morphology
Abnormality of the shoulder blade
0000782
Abnormality of the ribs
Rib abnormalities
0000772
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Atrioventricular block
Interruption of electrical communication between upper and lower chambers of heart
0001678
Cardiorespiratory arrest 0006543
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Iliac crest serration 0008786
Long fibula
Long calf bone
0003085
Metaphyseal chondrodysplasia 0005871
Platyspondyly
Flattened vertebrae
0000926
Rhizomelic arm shortening 0004991
Short metacarpal
Shortened long bone of hand
0010049
Short palm 0004279
Spondylometaphyseal dysplasia 0002657
30%-79% of people have these symptoms
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ]
0001321
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Turricephaly
Tall shaped skull
Tower skull shape
[ more ]
0000262
5%-29% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ]
0005616
Agenesis of corpus callosum 0001274
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Myocarditis
Inflammation of heart muscle
0012819
Pachygyria
Fewer and broader ridges in brain
0001302
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs 0000878
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
0001631
Autosomal recessive inheritance 0000007
Brachydactyly
Short fingers or toes
0001156
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
Cupped ribs
Rib cupping
0000887
Delayed epiphyseal ossification 0002663
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
Flared iliac wings 0002869
Flat acetabular roof 0003180
Focal lissencephaly 0007187
Horizontal inferior border of scapula 0031233
Irregular tarsal bones
Abnormal shape of ankle bones
0004688
Large posterior fontanelle 0004491
Metaphyseal cupping 0003021
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Narrow greater sciatic notch 0003375
Porencephalic cyst
Cavity within brain
0002132
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
0001582
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short finger
Stubby finger
0009381
Short long bone
Long bone shortening
0003026
Short neck
Decreased length of neck
0000470
Short phalanx of finger
Short finger bones
0009803
Short ribs 0000773
Short toe
Short toes
Stubby toes
[ more ]
0001831
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Widened greater sciatic notch 0008798
Showing of 53 |
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 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.
  • European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    New Castle upon Tyne
    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 Sedaghatian 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 Spondylometaphyseal dysplasia Sedaghatian type:
    International Skeletal Dysplasia Registry (ISDR)
     
  • Greenberg Center for Skeletal Dysplasias
    Johns Hopkins University
    McKusick-Nathans Institute of Genetic Medicine
    600 North Wolfe Street
    Baltimore, MD 21287
    Telephone: 410-614-0977
    Website: https://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinics/about/greenberg-center-skeletal-dysplasia/

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 Spondylometaphyseal dysplasia Sedaghatian type. Click on the link to view a sample search on this topic.

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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