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.
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||
|80%-99% of people have these symptoms|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|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
Short limb dwarfism, disproportionate
Flat facial shape
|Increased nuchal translucency||0010880|
Increased size of skull
Large head circumference
Low chest circumference
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
|30%-79% of people have these symptoms|
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation
Decreased size of midface
Underdevelopment of midface
Eyeballs bulging out
|5%-29% of people have these symptoms|
|Abnormality of the kidney||
|Abnormality of the sacroiliac joint||0100781|
|Atrial septal defect||0001631|
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Low set ears
|Patent ductus arteriosus||0001643|
|Percent of people who have these symptoms is not available through HPO|
|Bowing of the long bones||
Bowed long bones
Bowing of long bones
|Decreased fetal movement||0001558|
Flared wide portion of long bone
|Lethal short-limbed short stature||0008909|
Irregular wide portion of a long bone
|Severe short stature||
Short stature, severe
|Short long bone||
Long bone shortening
|Short sacroiliac notch||0003185|
|Small abnormally formed scapulae||
Small abnormally formed shoulder blade
Short and narrow face
|Small foramen magnum||
Little foramen magnum
Narrow foramen magnum
|Wide-cupped costochondral junctions||0000910|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
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.
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.
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. Submit a new question
I was pregnant with twins who were diagnosed with thanatophoric dysplasia. What are the chances that I will have another pregnancy affected by this condition? See answer