DocSym
β
Searchsearch
Search
(Q77.1) Thanatophoric short stature
More details coming soon
37 652 in individuals diagnosis thanatophoric short stature confirmed
2 760 deaths with diagnosis thanatophoric short stature
7% mortality rate associated with the disease thanatophoric short stature
Diagnosis thanatophoric short stature is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis thanatophoric short stature
1 527 (10.3 %)Died from this diagnosis.
100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
22 828
Women receive the diagnosis thanatophoric short stature
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease thanatophoric short stature - Men aged 5-9 and Women aged 10-14
In Men diagnosis is most often set at age 0-19, 25-34
Less common in men the disease occurs at Age 20-24, 35-95+Less common in women the disease occurs at Age 40-44, 55-59, 70-79, 85-95+
In Women diagnosis is most often set at age 0-39, 45-54, 60-69, 80-84
Disease Features thanatophoric short stature
Absence or low individual and public risk
Thanatophoric short stature - what does this mean
Thanatophoric short stature is a genetic disorder caused by a mutation in the fgfr3 gene. this mutation results in abnormal development of the bones, which leads to short stature, a prominent chest, and short limbs. it is usually fatal within the first few weeks of life due to respiratory failure.
What happens during the disease - thanatophoric short stature
Thanatophoric short stature is a rare genetic disorder caused by a mutation in the fgfr3 gene. this mutation results in abnormal bone development, leading to the short stature and other skeletal deformities associated with this disorder. the abnormal bone development is caused by a disruption in the normal signaling of the fgfr3 gene, which is responsible for growth and development of the bones. as a result, the bones fail to grow and develop properly, leading to the short stature and other skeletal deformities.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical exam
- X-rays of the bones and joints
- CT scan of the chest and abdomen
- MRI of the spine and brain
- Genetic testing
- Blood tests
- Ultrasound of the abdomen
- Echocardiogram
Treatment and Medical Assistance
Main goal of the treatment: To reduce the severity of symptoms and improve the quality of life of the patient.
- Prescription of medications to improve breathing and reduce the risk of respiratory infections.
- Physical therapy to improve strength and mobility.
- Occupational therapy to help the patient learn how to perform daily activities.
- Counseling to help the patient and family cope with the diagnosis and any emotional issues.
- Nutritional counseling to ensure the patient is receiving proper nutrition.
- Surgery to correct any skeletal deformities.
- Regular monitoring of the patient's health.
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Thanatophoric short stature - Prevention
Thanatophoric short stature is a rare genetic disorder that can be prevented by genetic counseling and pre-implantation genetic diagnosis (pgd). pgd can be used to identify embryos with the disorder and only those without the disorder can be implanted. additionally, genetic counseling can help couples learn about the risks of having a child with the disorder and how to reduce them.