Down syndrome: Difference between revisions
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==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 | ||
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===Cardiac=== | ===Cardiac=== | ||
*Congenital heart disease (usually [[ASD]] or [[VSD]]) in ~40% | *Congenital heart disease (usually [[ASD]] or [[VSD]]) in ~40% | ||
===Endocrine=== | ===Endocrine=== | ||
*[[Thyroid disease]] is common | *[[Thyroid disease]] is common | ||
===Gastrointestinal=== | ===Gastrointestinal=== | ||
*Increased risk of intestinal atresia and [[Hirschsprung’s disease]] | *Increased risk of intestinal atresia and [[Hirschsprung’s disease]] | ||
*Functional [[ileus]] and [[constipation]] are common | *Functional [[ileus]] and [[constipation]] are common | ||
===HEENT=== | ===HEENT=== | ||
*Increased incidence of cataracts, hearing loss | *Increased incidence of cataracts, hearing loss | ||
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*Ligamentous laxity increases the risk of dislocation or subluxation at any joint | *Ligamentous laxity increases the risk of 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. | 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== | ||
[[Cervical injury (peds)]] | [[Cervical injury (peds)]] | ||
==External Links== | |||
==References== | ==References== | ||
Revision as of 09:40, 11 February 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
- 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 arterial hypertension
Cardiac
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-axial subluxation
- 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