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  3. Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
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Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech


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Other Names:
SED-BDS; Fantasy Island syndrome; Tattoo 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: 163654

Definition
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

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 63 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal metatarsal morphology
Abnormality of the long bone of foot
0001832
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
0000174
Abnormality of the chin 0000306
Abnormality of the voice
Voice abnormality
0001608
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Blepharophimosis
Narrow opening between the eyelids
0000581
Brachydactyly
Short fingers or toes
0001156
Broad long bones
Wide long bones
Widened long bones
[ more ]
0005622
Broad neck
Increased width of neck
Wide neck
[ more ]
0000475
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Cubitus valgus
Outward turned elbows
0002967
Cuboid-shaped vertebral bodies 0004634
Curly eyelashes 0007665
Curly hair 0002212
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
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
Enlarged thorax
Wide rib cage
0100625
Facial hirsutism 0009937
Hypoplastic pelvis 0008839
Limited pronation/supination of forearm 0006394
Long philtrum 0000343
Low posterior hairline
Low hairline at back of neck
0002162
Microtia
Small ears
Underdeveloped ears
[ more ]
0008551
Multiple rows of eyelashes
Extra rows of eyelashes
0008496
Nail dysplasia
Atypical nail growth
0002164
Narrow philtrum 0011829
Pectus excavatum
Funnel chest
0000767
Rhizo-meso-acromelic limb shortening 0005069
Short long bone
Long bone shortening
0003026
Short neck
Decreased length of neck
0000470
Short thorax
Shorter than typical length between neck and abdomen
0010306
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
0000574
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
0000179
Thick upper lip vermilion
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ]
0000215
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Wide mouth
Broad mouth
Large mouth
[ more ]
0000154
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
0000431
Percent of people who have these symptoms is not available through HPO
Anterior scalloping of vertebral bodies 0004580
Autosomal dominant inheritance 0000006
Carpal bone hypoplasia
Small carpal bones
Small carpals
[ more ]
0001498
Coarse facial features
Coarse facial appearance
0000280
Delayed epiphyseal ossification 0002663
Flexion contracture
Flexed joint that cannot be straightened
0001371
High pitched voice 0001620
Hoarse voice
Hoarseness
Husky voice
[ more ]
0001609
Hypoplastic iliac wing 0002866
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Platyspondyly
Flattened vertebrae
0000926
Postnatal growth retardation
Growth delay as children
0008897
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Round face
Circular face
Round facial appearance
Round facial shape
[ more ]
0000311
Short foot
Short feet
Small feet
[ more ]
0001773
Short metacarpal
Shortened long bone of hand
0010049
Short palm 0004279
Short phalanx of finger
Short finger bones
0009803
Short toe
Short toes
Stubby toes
[ more ]
0001831
Single interphalangeal crease of fifth finger 0006216
Small epiphyses
Small end part of bone
0010585
Spondyloepiphyseal dysplasia 0002655
Tapered metacarpals
Tapered long bones of hand
0006108
Tapered phalanx of finger
Tapered finger bone
0006192
Thoracic hypoplasia
Small chest
Small thorax
[ more ]
0005257
Showing of 63 |
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 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. 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 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech:
    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 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. 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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