Down syndrome
Revision as of 11:26, 20 November 2017 by Ostermayer (talk | contribs)
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 relatively small mouth increase the difficulty of intubation
Endocrine
- Hashimoto’s thyroiditis is present in a third of patients and acquired hypothyroidism is common
Gastrointestinal
- intestinal atresia. Constipation is almost universal in Down syndrome. In addition, there is a higher rate of Hirschsprung’s disease.