Down syndrome

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 arterial 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-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

See Also

Cervical injury (peds)

Video

{{#widget:YouTube|id=M9jfoCA8paA}}