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  3. Spondylometaphyseal dysplasia with dentinogenesis imperfecta
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Spondylometaphyseal dysplasia with dentinogenesis imperfecta


Title




Other Names:
Goldblatt syndrome; Odontochondrodysplasia; ODCD; Goldblatt syndrome; Odontochondrodysplasia; ODCD; Goldblatt chondrodysplasia See More
Categories:
Congenital and Genetic Diseases; Mouth 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: 166272

Definition
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.

Epidemiology
To date, 11 patients have been reported.

Clinical description
Chondrodysplasia is characterized by mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit.

Etiology
The etiology is unknown.

Genetic counseling
The condition is most probably hereditary, transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2011

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 55 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Dentinogenesis imperfecta 0000703
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Platyspondyly
Flattened vertebrae
0000926
Short palm 0004279
Short stature
Decreased body height
Small stature
[ more ]
0004322
30%-79% of people have these symptoms
Coxa valga 0002673
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
0000684
Scoliosis 0002650
Square pelvis bone 0003278
5%-29% of people have these symptoms
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ]
0006487
Death in infancy
Lethal in infancy
Infantile death
[ more ]
0001522
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
Frontal bossing 0002007
Patent ductus arteriosus 0001643
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ]
0002098
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
0000278
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
1%-4% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Nephronophthisis 0000090
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ]
0002089
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Spondylometaphyseal dysplasia 0002657
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Biconvex vertebral bodies 0004625
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Coronal cleft vertebrae 0003417
Delayed ossification of carpal bones 0001216
Flared iliac wings 0002869
Flat acetabular roof 0003180
Genu recurvatum
Back knee
Knee hyperextension
[ more ]
0002816
Genu varum
Outward bow-leggedness
Outward bowing at knees
[ more ]
0002970
Irregular epiphyses
Irregular end part of long bone
0010582
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
0001382
Long philtrum 0000343
Mesomelia
Disproportionately short middle portion of limb
0003027
Mesomelic short stature 0008845
Metaphyseal cupping 0003021
Metaphyseal widening
Broad wide portion of long bone
0003016
Motor delay 0001270
Narrow face
Decreased breadth of face
Decreased width of face
[ more ]
0000275
Osteoporosis 0000939
Pectus carinatum
Pigeon chest
0000768
Polycystic kidney dysplasia 0000113
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Relative macrocephaly
Relatively large head
0004482
Short long bone
Long bone shortening
0003026
Short metacarpal
Shortened long bone of hand
0010049
Short phalanx of finger
Short finger bones
0009803
Small epiphyses
Small end part of bone
0010585
Showing of 55 |
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.
  • 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 with dentinogenesis imperfecta. 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 dentinogenesis imperfecta:
    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 with dentinogenesis imperfecta. 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.
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rare disease research!
You can help advance rare disease research!
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