Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech

Title

Other Names:

SED-BDS; Fantasy Island syndrome; Tattoo dysplasia

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: 163654

Disease 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: 2/29/2012

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
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		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

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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.

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 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
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 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. Click on the link to view a sample search on this topic.

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January 24, 2019

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