(Q77.2) Short rib syndrome

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37 652 in individuals diagnosis short rib syndrome confirmed

2 760 deaths with diagnosis short rib syndrome

7% mortality rate associated with the disease short rib syndrome

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis short rib syndrome is diagnosed Women are 21.26% more likely than Men

14 824

Men receive the diagnosis short rib syndrome

1 527 (10.3 %)

Died from this diagnosis.

100

22 828

Women receive the diagnosis short rib syndrome

1 233 (5.4 %)

Died from this diagnosis.

Risk Group for the Disease short rib syndrome - 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 short rib syndrome

Absence or low individual and public risk

Short rib syndrome - what does this mean

Short rib syndrome is a rare genetic disorder caused by a mutation in the genes that control the development of the ribs. this mutation results in abnormally short ribs, which can lead to severe breathing problems and other complications.

What happens during the disease - short rib syndrome

Short rib syndrome is a rare genetic disorder caused by mutations in the genes responsible for the development of the rib cage. these mutations result in the ribs being abnormally short and underdeveloped, which can lead to a variety of medical problems, including respiratory insufficiency, abnormal chest wall development, and skeletal abnormalities. the decreased chest wall development can lead to decreased lung capacity and difficulty breathing, while the skeletal abnormalities can cause a variety of issues, including scoliosis, kyphosis, and joint and limb deformities.

Clinical Pattern

More details coming soon

How does a doctor diagnose

Complete physical examination
X-ray imaging of the chest
CT scan of the chest
MRI of the chest
Bone marrow biopsy
Genetic testing

Treatment and Medical Assistance

Main goal: Treat Short rib syndrome

Prescribe medications to reduce symptoms and improve quality of life
Refer patient to a physical therapist to help with mobility and pain management
Refer patient to a nutritionist to create a dietary plan to maintain a healthy weight
Encourage patient to participate in regular exercise to increase strength and flexibility
Refer patient to a respiratory therapist to help manage breathing difficulties
Provide patient with education about the disease and its management
Refer patient to a genetic counselor to discuss inheritance and risk of passing the disease to children
Refer patient to a social worker to provide psychosocial support

28 Days of Hospitalization Required

Average Time for Outpatient Care Not Established

Short rib syndrome - Prevention

Short rib syndrome is a rare condition that can be prevented by monitoring prenatal growth, monitoring for signs of respiratory distress, and avoiding physical trauma to the chest. additionally, prenatal ultrasounds can be used to detect possible abnormalities in the chest that may be associated with the condition.

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