Down syndrome: Difference between revisions

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==Background==
==Background==
Caused by trisomy 21, the most common chromosomal disorder in humansPatients are at increased risk for injuries and diseases related to issues caused by their genetic condition.
*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==
==Clinical Features==
Patients may have some or all of the following abnormalities. All patients have intellectual disability:
All patients have intellectual disability. Patients may also have some or all of the following abnormalities:  
*Mental impairment  
*Mental impairment  
*Abnormal teeth
*Abnormal teeth
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*Umbilical hernia
*Umbilical hernia
*Shortened hands
*Shortened hands
*Increased skin back of neck
*Increased skin at the back of the neck
*Short neck  
*Short neck  
*Hypotonia tone
*Hypotonia
*Obstructive sleep apnea
*Obstructive sleep apnea
*Ligamentous laxity
*Ligamentous laxity
*Single transverse palmar crease
*Single transverse palmar crease (Simian crease)
*Large tongue  
*Large tongue
*Congenital heart disease
*Congenital heart disease
*Flattened nose
*Flattened nose
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==Pathology by System==
==Pathology by System==
The following are common clinical conditions encountered in patients with Down's
Patients with Down syndrome may have some or all of the following EM-relevant pathologies
===Airway===
 
*Macroglossia and relatively small mouth increase the difficulty of intubation
===Airway/Respiratory===
*Macroglossia and a relatively small mouth
*Tracheal stenosis
*Obstructive sleep apnea
*[[Pulmonary hypertension]]
 
===Cardiac===
*[[Congenital heart disease]] (usually [[ASD]] or [[VSD]]) in ~40%
 
===Endocrine===
===Endocrine===
*Hashimoto’s thyroiditis is present in a third of patients and acquired hypothyroidism is common
*[[Thyroid disease]] is common
 
===Gastrointestinal===
===Gastrointestinal===
*intestinal atresia. Constipation is almost universal in Down syndrome. In addition, there is a higher rate of Hirschsprung’s disease.
*Increased risk of [[duodenal atresia|intestinal atresia]] and [[Hirschsprung's disease]]
*Functional [[ileus]] and [[constipation]] are common
 
===HEENT===
*Increased incidence of cataracts, hearing loss
*Small ear canals with increased rates of [[otitis media]]
*Early onset [[hearing loss]].
 
===Orthopedic===
*Cervical spine - increased risk of [[atlanto-occipital dissociation]]
*Ligamentous laxity increases the risk of [[joint dislocations|dislocation]] or subluxation at any joint


==Evaluation==
==Evaluation==
 
*Evaluation and management should focus on the patient's complaint or anatomic area of of concern while taking into consideration the above disease specific pathologies.


==Management==
==Management==
 
*Based on diagnosis and specific underlying problem


==Disposition==
==Disposition==
 
*Based on specific underlying problem


==See Also==
==See Also==
[[Cervical injury (peds)]]


 
==Video==
==External Links==
{{#widget:YouTube|id=M9jfoCA8paA}}
 


==References==
==References==
<references/>
<references/>


[[Category:Pediatrics]][[Category:Endocrinology]]
[[Category:Pediatrics]] [[Category:Trauma]] [[Category:Misc/General]]

Latest revision as of 18:52, 28 September 2019

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

All patients have intellectual disability. Patients may also have some or all of the following abnormalities:

  • Mental impairment
  • Abnormal teeth
  • Stunted growth
  • Slanted eyes
  • Umbilical hernia
  • Shortened hands
  • Increased skin at the back of the neck
  • Short neck
  • Hypotonia
  • Obstructive sleep apnea
  • Ligamentous laxity
  • Single transverse palmar crease (Simian crease)
  • Large tongue
  • Congenital heart disease
  • Flattened nose
  • Strabismus
  • Undescended testicles

Pathology by System

Patients with Down syndrome may have some or all of the following EM-relevant pathologies

Airway/Respiratory

Cardiac

Endocrine

Gastrointestinal

HEENT

  • Increased incidence of cataracts, hearing loss
  • Small ear canals with increased rates of otitis media
  • Early onset hearing loss.

Orthopedic

Evaluation

  • Evaluation and management should focus on the patient's complaint or anatomic area of of concern while taking into consideration the above disease specific pathologies.

Management

  • Based on diagnosis and specific underlying problem

Disposition

  • Based on specific underlying problem

See Also

Cervical injury (peds)

Video


References