(Q91) Edwards syndrome and patau syndrome

(Трисомия 13, Трисомия 18)

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18 991 in individuals diagnosis edwards syndrome and patau syndrome confirmed
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16 570 deaths with diagnosis edwards syndrome and patau syndrome
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87% mortality rate associated with the disease edwards syndrome and patau syndrome

Diagnosis edwards syndrome and patau syndrome is diagnosed Women are 31.50% more likely than Men

6 504

Men receive the diagnosis edwards syndrome and patau syndrome

7 576 (116.5 %)

Died from this diagnosis.

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12 487

Women receive the diagnosis edwards syndrome and patau syndrome

8 994 (72.0 %)

Died from this diagnosis.

Risk Group for the Disease edwards syndrome and patau syndrome - Men and Women aged 0

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In Men diagnosis is most often set at age 0-14, 45-49
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Less common in men the disease occurs at Age 15-44, 50-95+Less common in women the disease occurs at Age 10-24, 50-95+
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In Women diagnosis is most often set at age 0-9, 25-49

Disease Features edwards syndrome and patau syndrome

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Non-contagious
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Absence or low individual and public risk
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Edwards syndrome and patau syndrome - what does this mean

Edwards syndrome and patau syndrome are both caused by a chromosomal abnormality in which an extra copy of chromosome 18 is present. this extra copy disrupts the normal development of the baby, leading to a range of physical and mental disabilities that can be severe in some cases.

What happens during the disease - edwards syndrome and patau syndrome

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Clinical Pattern

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How does a doctor diagnose

  • Medical history and physical examination
  • Ultrasound
  • Chromosome studies
  • Blood tests
  • Amniocentesis
  • Fetal echocardiography
  • Fetal MRI
Additions:
  • Fetal blood sampling
  • Fetal tissue sampling

Treatment and Medical Assistance

Main goal of the treatment: To reduce the symptoms and improve the quality of life of the patient.
  • Regular check-ups with a medical specialist
  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Nutritional counseling
  • Behavioral therapy
  • Medication to control seizures, muscle spasms, and other symptoms
  • Surgery to correct physical abnormalities
  • Assistive devices to help with mobility
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33 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Edwards syndrome and patau syndrome - Prevention

Edwards syndrome and patau syndrome can be prevented by following a healthy lifestyle, avoiding alcohol and smoking, seeking genetic counseling prior to pregnancy, and undergoing prenatal screening and testing.

Main symptoms of the disease edwards syndrome and patau syndrome

Upper eyelid droop

(Eyelid ptosis, Eyelid sagging, Eyelid drooping, Eyelid sinking, Eyelid descent, Eyelid falling, Eyelid lowering, Eyelid droopiness)

Upper eyelid droop is a condition in which the eyelid appears to be drooping or sagging. It may be accompanied by difficulty opening the eye. It can be caused by trauma, neurological conditions, or aging. It can manifest as a drooping of the eyelid, a decrease in the amount of skin above the eyelid,...

Age: any ageAccociated with 10 diseases

Exophthalmos

(Bulging eyes, Protruding eyes, Prominent eyes, Pop-eyed, Goggle eyes, Gooseberry eyes, Staring eyes, Glaring eyes, Bug-eyed)

Exophthalmos is a symptom of an underlying medical condition in which the eyes protrude out of their sockets. It is characterized by an abnormally large appearance of the eyes and can be accompanied by redness, watering, and a feeling of pressure. It develops gradually over time, but in some cases c...

Age: 1 to 100Accociated with 4 diseases

Finger deformity

(Distortion of finger, Malformation of finger, Contortion of finger, Twisting of finger, Abnormal shape of finger, Crooked finger, Deformity of finger, Misalignment of finger, Misshapen finger, Finger disfiguration)

Finger deformity is a condition in which the shape of one or more fingers is abnormally altered. It can range from mild to severe and can cause pain, stiffness, and decreased range of motion. It can be caused by trauma, genetics, and certain medical conditions. Symptoms can include swelling, redness...

Age: 1 to 100Accociated with 17 diseases

Dementia

Dementia is a symptom of a wide range of conditions that affect the brain. It is characterised by a decline in cognitive function, including memory, language, problem-solving, and judgement. It can also affect behaviour, emotions, and the ability to perform everyday activities. Symptoms typically de...

Age: 1 to 100Accociated with 19 diseases

Delayed stages of development

(Retardation, Sluggishness, Arrested growth, Backwardness, Lateness, Stunted growth, Slow progress, Lag, Slowness, Stagnation)

Delayed stages of development is a symptom where a person is not meeting the expected milestones for their age. It can manifest as a lack of certain skills, such as speech, physical coordination, or cognitive abilities. It can also appear as a slower rate of development than peers, such as taking lo...

Age: 1 to 100Accociated with 19 diseases

Specified forms of the disease

(Q91.0) Trisomy 18, meiotic nondisjunction
(Q91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
(Q91.2) Trisomy 18, translocation
(Q91.3) Edwards syndrome, unspecified
(Q91.4) Trisomy 13, meiotic nondisjunction
(Q91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
(Q91.6) Trisomy 13, translocation
(Q91.7) Patau syndrome, unspecified