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  3. Thanatophoric dysplasia type 1
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Thanatophoric dysplasia type 1


Title


Other Names:
Thanatophoric dwarfism 1; Thanatophoric dysplasia type I
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: 1860

Disease definition
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

Epidemiology
The prevalence is unknown but it is more common than TD 2 (see this term).

Clinical description
TD1 presents in the prenatal period (in the first to second trimester) with growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly of the vertebrae. Distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, proptosis and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression. Platyspondylic lethal skeletal dysplasia, San Diego type (PTSD-SD) is now thought to be an earlier fetal phenotype of TD1, and is no longer characterized as a distinct dysplasia.

Etiology
TD1 is caused by one of several distinct missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, located to chromosome 4p16.3.

Genetic counseling
TD1 is inherited autosomal dominantly but the majority of cases are due to a de novo mutation in the proband. Genetic counseling allows families who have already had one child with TD1 to know that recurrence rate is about 2%, so their chance of having a healthy child is high.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2013

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
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Brachydactyly
Short fingers or toes
0001156
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
Femoral bowing
Bowed thighbone
0002980
Flat face
Flat facial shape
0012368
Hypoplastic ilia 0000946
Intellectual disability, profound
IQ less than 20
0002187
Lethal short-limbed short stature 0008909
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Micromelia
Smaller or shorter than typical limbs
0002983
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Platyspondyly
Flattened vertebrae
0000926
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
0001582
Respiratory insufficiency
Respiratory impairment
0002093
Short femur
Short thighbone
0003097
Short sacroiliac notch 0003185
Skeletal dysplasia 0002652
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
0001171
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
0006703
Excessive wrinkled skin 0007392
Frontal bossing 0002007
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Increased nuchal translucency 0010880
Kyphosis
Hunched back
Round back
[ more ]
0002808
Polyhydramnios
High levels of amniotic fluid
0001561
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
Ventriculomegaly 0002119
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
5%-29% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
0000077
Acanthosis nigricans
Darkened and thickened skin
0000956
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
Cloverleaf skull 0002676
Heterotopia 0002282
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Patent ductus arteriosus 0001643
Seizures
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ]
0006487
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Flared metaphysis
Flared wide portion of long bone
0003015
Global developmental delay 0001263
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Neonatal death
Neonatal lethal
0003811
Severe platyspondyly 0004565
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
0003510
Short long bone
Long bone shortening
0003026
Short ribs 0000773
Small abnormally formed scapulae
Small abnormally formed shoulder blade
0006584
Small face
Short and narrow face
Small facies
[ more ]
0000274
Small foramen magnum
Little foramen magnum
Narrow foramen magnum
[ more ]
0002677
Wide-cupped costochondral junctions 0000910
Showing of 53 |
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.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Genetics Home Reference.

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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Thanatophoric dysplasia type 1. 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 Thanatophoric dysplasia type 1:
    International Skeletal Dysplasia Registry (ISDR)
     

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Thanatophoric dysplasia type 1. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Thanatophoric dysplasia type 1. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

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

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!
toolbox
Find out how with the NCATS Toolkit.

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