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]
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 |
|
Seizure
|
0001250 | |
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.
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.
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.
|
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.
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.
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.
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