Down syndrome: Difference between revisions
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The following are common clinical conditions encountered in patients with Down's | The following are common clinical conditions encountered in patients with Down's | ||
===Airway=== | ===Airway=== | ||
*Macroglossia and relatively small mouth | *Macroglossia and a relatively small mouth | ||
*Tracheal stenosis | |||
*Obstructive sleep apnea and pulmonary arterial hypertension | |||
===Endocrine=== | ===Endocrine=== | ||
*Hashimoto’s thyroiditis is present in a third of patients and acquired hypothyroidism is common | *Hashimoto’s thyroiditis is present in a third of patients and acquired hypothyroidism is common | ||
===Gastrointestinal=== | ===Gastrointestinal=== | ||
*intestinal atresia | *Pediatric patients are at risk for intestinal atresia and Hirschsprung’s disease | ||
*Functional illeus and constipation is common | |||
===HENT=== | |||
*Increased incidence of cataracts | |||
*Small ear canals with increased rates of otitis media | |||
*Early onset hearing loss. | |||
===Cardiac=== | |||
* | |||
==Evaluation== | ==Evaluation== | ||
Revision as of 11:41, 20 November 2017
Background
Caused by trisomy 21, the most common chromosomal disorder in humans. Patients are at increased risk for injuries and diseases related to issues caused by their genetic condition.
Clinical Features
Patients may have some or all of the following abnormalities. All patients have intellectual disability:
- Mental impairment
- Abnormal teeth
- Stunted growth
- Slanted eyes
- Umbilical hernia
- Shortened hands
- Increased skin back of neck
- Short neck
- Hypotonia tone
- Obstructive sleep apnea
- Ligamentous laxity
- Single transverse palmar crease
- Large tongue
- Congenital heart disease
- Flattened nose
- Strabismus
- Undescended testicles
Pathology by System
The following are common clinical conditions encountered in patients with Down's
Airway
- Macroglossia and a relatively small mouth
- Tracheal stenosis
- Obstructive sleep apnea and pulmonary arterial hypertension
Endocrine
- Hashimoto’s thyroiditis is present in a third of patients and acquired hypothyroidism is common
Gastrointestinal
- Pediatric patients are at risk for intestinal atresia and Hirschsprung’s disease
- Functional illeus and constipation is common
HENT
- Increased incidence of cataracts
- Small ear canals with increased rates of otitis media
- Early onset hearing loss.