Down syndrome: Difference between revisions
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*Early onset hearing loss. | *Early onset hearing loss. | ||
===Cardiac=== | ===Cardiac=== | ||
*Cardiac defects - | *Cardiac defects - complete atrioventricular septal defect (most common), ventricular septal defect, atrial septal defect, Tetralogy of Fallot, patent ductus arteriosus | ||
===Orthopedic=== | ===Orthopedic=== | ||
*Cervical Spine - increased risk of atlanto-axial subluxation | *Cervical Spine - increased risk of atlanto-axial subluxation |
Revision as of 02:55, 22 October 2018
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
The following are common clinical conditions encountered in patients with Down's
Airway
- Macroglossia and a relatively small mouth
- Tracheal stenosis
- Obstructive sleep apnea and pulmonary arterial hypertension
Endocrine
- Hashimoto’s thyroiditis is present in a third of patients and acquired hypothyroidism is common
Gastrointestinal
- Pediatric patients are at risk for intestinal atresia and Hirschsprung’s disease
- Functional illeus and constipation is common
HENT
- Increased incidence of cataracts
- Small ear canals with increased rates of otitis media
- Early onset hearing loss.
Cardiac
- Cardiac defects - complete atrioventricular septal defect (most common), ventricular septal defect, atrial septal defect, Tetralogy of Fallot, patent ductus arteriosus
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 managment 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