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  3. Thanatophoric dysplasia type 2
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Thanatophoric dysplasia type 2


Title




Other Names:
Cloverleaf skull with thanatophoric dwarfism; Thanatophoric dysplasia with Kleeblattschaedel; TD2; Cloverleaf skull with thanatophoric dwarfism; Thanatophoric dysplasia with Kleeblattschaedel; TD2; Thanatophoric dysplasia type II; Thanatophoric dwarfism - cloverleaf skull; Thanatophoric dwarfism type 2; Cloverleaf skull-micromelic bone dysplasia syndrome; Thanatophoric dwarfism-cloverleaf skull syndrome See More
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases
This disease is grouped under:
Thanatophoric dysplasia

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: 93274

Definition
Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

Epidemiology
The prevalence is unknown but it is less common than TD1 (see this term).

Clinical description
TD2 presents in the prenatal period (in the first to second trimester) with micromelia, long-bones (femurs) that are straight and not as short as those seen in TD type 1, platyspondyly of the vertebrae, narrow thorax, and a cloverleaf (trilobed) skull. Distinctive facial features include macrocephaly, frontal bossing, low nasal bridge, large anterior fontanel and proptosis. Polyhydramnios is common. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.

Etiology
TD2 is caused by a single missense mutation (K650E) in the fibroblast growth factor receptor 3 (FGFR3) gene, located to chromosome 4p16.3.

Genetic counseling
TD2 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 TD2 to know that recurrence rate is about 2%, so their chance of having a healthy child is high. Expert reviewers: Dr. Michael Bober and Ms. Angie Duker

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 48 |
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
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
0006703
Brachydactyly
Short fingers or toes
0001156
Cloverleaf skull 0002676
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
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
Flat face
Flat facial shape
0012368
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
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 stature
Decreased body height
Small stature
[ more ]
0004322
Short thorax
Shorter than typical length between neck and abdomen
0010306
Skeletal dysplasia 0002652
30%-79% of people have these symptoms
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
Seizure 0001250
Ventriculomegaly 0002119
5%-29% of people have these symptoms
Abnormality of neuronal migration 0002269
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
Encephalocele 0002084
Holoprosencephaly 0001360
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
0001376
Patent ductus arteriosus 0001643
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Flared metaphysis
Flared wide portion of long bone
0003015
Hypoplastic ilia 0000946
Lethal short-limbed short stature 0008909
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Neonatal death
Neonatal lethal
0003811
Short greater sciatic notch 0003185
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 48 |
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.

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 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.

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 2. 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 2:
    International Skeletal Dysplasia Registry (ISDR)
     

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 2. 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 2. 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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