Down syndrome: Difference between revisions
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==Background== | ==Background== | ||
Caused by trisomy 21, the most common chromosomal disorder in humans | *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. 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 | *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== | ||
Patients with Down syndrome may have some or all of the following EM-relevant pathologies | |||
===Airway=== | |||
*Macroglossia and a relatively small mouth | ===Airway/Respiratory=== | ||
*Macroglossia and a relatively small mouth | |||
*Tracheal stenosis | *Tracheal stenosis | ||
*Obstructive sleep apnea | *Obstructive sleep apnea | ||
*[[Pulmonary hypertension]] | |||
===Cardiac=== | |||
*[[Congenital heart disease]] (usually [[ASD]] or [[VSD]]) in ~40% | |||
===Endocrine=== | ===Endocrine=== | ||
* | *[[Thyroid disease]] is common | ||
===Gastrointestinal=== | ===Gastrointestinal=== | ||
* | *Increased risk of [[duodenal atresia|intestinal atresia]] and [[Hirschsprung's disease]] | ||
*Functional | *Functional [[ileus]] and [[constipation]] are common | ||
=== | |||
*Increased incidence of cataracts | ===HEENT=== | ||
*Small ear canals with increased rates of otitis media | *Increased incidence of cataracts, hearing loss | ||
*Early onset hearing loss. | *Small ear canals with increased rates of [[otitis media]] | ||
*Early onset [[hearing loss]]. | |||
===Orthopedic=== | ===Orthopedic=== | ||
*Cervical | *Cervical spine - increased risk of [[atlanto-occipital dissociation]] | ||
*Ligamentous laxity increases the risk of dislocation or subluxation at any joint | *Ligamentous laxity increases the risk of [[joint dislocations|dislocation]] or subluxation at any joint | ||
==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== | ==Disposition== | ||
*Based on specific underlying problem | |||
==See Also== | ==See Also== | ||
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<references/> | <references/> | ||
[[Category:Pediatrics]][[Category: | [[Category:Pediatrics]] [[Category:Trauma]] [[Category:Misc/General]] | ||
Latest revision as of 18:48, 17 April 2024
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
- Macroglossia and a relatively small mouth
- Tracheal stenosis
- Obstructive sleep apnea
- Pulmonary hypertension
Cardiac
- Congenital heart disease (usually ASD or VSD) in ~40%
Endocrine
- Thyroid disease is common
Gastrointestinal
- Increased risk of 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 dislocation or subluxation at any joint
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