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== | ||
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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 arterial hypertension]] | |||
===Cardiac=== | |||
*Congenital heart disease (usually [[ASD]] or [[VSD]]) in ~40% | |||
===Endocrine=== | ===Endocrine=== | ||
* | *[[Thyroid disease]] is common | ||
===Gastrointestinal=== | ===Gastrointestinal=== | ||
* | *Increased risk of intestinal atresia and [[Hirschsprung’s disease]] | ||
*Functional | *Functional [[ileus]] and [[constipation]] are common | ||
=== | ===HEENT=== | ||
*Increased incidence of cataracts | *Increased incidence of cataracts, hearing loss | ||
*Small ear canals with increased rates of otitis media | *Small ear canals with increased rates of [[otitis media]] | ||
*Early onset hearing loss. | *Early onset hearing loss. | ||
===Orthopedic=== | ===Orthopedic=== | ||
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==Evaluation and Managment== | ==Evaluation and Managment== | ||
Evaluation and | 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. | ||
==Disposition== | ==Disposition== | ||
Revision as of 02:33, 27 January 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
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
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 and Managment
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.
Disposition
Disposition will depend on the specific problem and availability of any needed specialist