Rare Neurology News
Advertisement
Disease Profile
Thanatophoric dysplasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Neonatal
ICD-10
Q77.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dwarfism thanatophoric; Thanatophoric Dwarfism; TD
Summary
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by
Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.[1]
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.
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 |
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 |
Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
Flat face |
Flat facial shape
|
0012368 |
Increased nuchal translucency | 0010880 | |
IQ less than 20
|
0002187 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Frontal bossing | 0002007 | |
Gray matter heterotopia | 0002282 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Abnormality of the kidney |
Abnormal kidney
|
0000077 |
Abnormality of the sacroiliac joint | 0100781 | |
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 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hip dysplasia | 0001385 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Patent ductus arteriosus | 0001643 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
0001250 |
Cause
Diagnosis
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include homozygous achondroplasia, achondrogenesis (types 1A, 1B, and 2), SADDAN, short rib-polydactyly syndromes, osteogenesis imperfecta type 2, platyspondylic lethal skeletal dysplasias, dyssegmental dysplasia Silverman-Handmaker type, and campomelic dysplasia.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Helping After Neonatal Death (HAND)
Los Gatos, CA 95031
Telephone: 888-908-4263
E-mail: [email protected]
Website: https://www.handonline.org/resources/handgroups.html
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Thanatophoric dysplasia. 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.
- 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. Click on the link to view a sample search on this topic.
References
- Thanatophoric dysplasia. Genetics Home Reference (GHR). October 2012; https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia.
- Karczeski B, Cutting GR. Thanatophoric Dysplasia. GeneReviews. September 12, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1366/.
Rare Neurology News