Down syndrome: Difference between revisions

Latest revision as of 00:56, 17 November 2020

Presents at birth with hypotonia, short neck, single palmar crease and characteristic facial features, which include flat facial profile, oblique palpebral fissures, and epicanthic folds
Mental impairment
Half will have congenital heart disease
Increased risk of leukemia, including acute lymphoblastic leukemia and acute myeloid leukemia
Increased risk of pneumonia
Early Alzheimer disease starting around age 40 years
Median age of death is 47 years

@@ Line 1: / Line 1: @@
-== Background ==
+==Background==
-=== Epidemiology ===
+===Epidemiology===
-* Most common chromosomal disorder
+*Most common chromosomal disorder, occurring in 1:800 live births
-* Most common genetic cause of mental impairment
+*Most common genetic cause of mental impairment
-=== Pathophysiology ===
+===Pathophysiology===
-* Trisomy 21, most commonly caused by meiotic non-disjunction
+*Trisomy 21, most commonly caused by meiotic non-disjunction
-== Clinical Manifestations ==
+==Clinical Manifestations==
-* Characteristic facial features, including flat facial profile, oblique palpebral fissures, and epicanthic folds
+*Presents at birth with hypotonia, short neck, single palmar crease and characteristic facial features, which include flat facial profile, oblique palpebral fissures, and epicanthic folds
+*Mental impairment
-* Half will have [[congenital heart disease]]
+*Half will have [[congenital heart disease]]
-* Increased risk of leukemia, including [[acute lymphoblastic leukemia]] and [[acute myeloid leukemia]]
-* Increased risk of [[pneumonia]]
+*Increased risk of leukemia, including [[acute lymphoblastic leukemia]] and [[acute myeloid leukemia]]
+*Increased risk of [[pneumonia]]
-* Early [[Alzheimer disease]] starting around age 40 years
-* Median age of death is 47 years
+*Early [[Alzheimer disease]] starting around age 40 years
+*Median age of death is 47 years
 [[Category:Pediatrics]]