DocSym
β
Searchsearch
Search
(D82.2) Immunodeficiency with short-limbed stature
More details coming soon
57 978 in individuals diagnosis immunodeficiency with short-limbed stature confirmed
2 889 deaths with diagnosis immunodeficiency with short-limbed stature
5% mortality rate associated with the disease immunodeficiency with short-limbed stature
Diagnosis immunodeficiency with short-limbed stature is diagnosed Men are 15.88% more likely than Women
33 592
Men receive the diagnosis immunodeficiency with short-limbed stature
1 730 (5.2 %)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
24 386
Women receive the diagnosis immunodeficiency with short-limbed stature
1 159 (4.8 %)Died from this diagnosis.
Risk Group for the Disease immunodeficiency with short-limbed stature - Men and Women aged 5-9
In Men diagnosis is most often set at age 0-19, 25-29, 40-44, 50-64, 70-84
Less common in men the disease occurs at Age 20-24, 30-39, 45-49, 65-69, 85-95+Less common in women the disease occurs at Age 40-44, 50-69, 80-95+
In Women diagnosis is most often set at age 0-39, 45-49, 70-79
Disease Features immunodeficiency with short-limbed stature
Absence or low individual and public risk
Immunodeficiency with short-limbed stature - what does this mean
Immunodeficiency with short-limbed stature is a rare inherited disorder caused by a genetic mutation that affects the immune system and causes short stature. it is characterized by a weakened immune system, which can lead to frequent infections, and short limbs due to abnormal bone growth.
What happens during the disease - immunodeficiency with short-limbed stature
Immunodeficiency with short-limbed stature is caused by mutations in the genes responsible for the production of growth factors, resulting in decreased production of these hormones and subsequent stunted growth. as a result, the body's immune system is weakened, leading to an increased susceptibility to infections.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Blood tests to check levels of immunoglobulins and lymphocytes
- Genetic testing to identify any mutations or chromosomal abnormalities
- X-rays to assess skeletal development
- CT scan or MRI to examine internal organs and tissues
- Skin biopsy to check for any infection or inflammation
- Urine and stool tests to check for infection
- Pulmonary function tests to evaluate respiratory system
Treatment and Medical Assistance
Main goal of the treatment: To treat the immunodeficiency and short-limbed stature.
- Administer immunoglobulin therapy
- Prescribe antibiotics to prevent infection
- Prescribe growth hormone therapy
- Provide physical therapy to improve mobility
- Monitor blood levels of immunoglobulins
- Provide nutritional support
- Provide psychological support
- Conduct regular check-ups and assessments
8 Days of Hospitalization Required
55 Hours Required for Outpatient Treatment
Immunodeficiency with short-limbed stature - Prevention
Immunodeficiency with short-limbed stature can be prevented by ensuring that individuals receive all recommended immunizations, maintain a healthy diet and lifestyle, and receive regular health screenings to identify any potential issues. additionally, genetic counseling should be considered for those with a family history of the condition.