Down syndrome in Adult
Patients are at greater risk for atlantoaxial instability, hypothyroidism, constipation, gastroesophageal reflux disease, congenital heart disease, leukemia, impaired immune system, obstructive sleep apnea, hearing deficits, vision loss, seizures, dysphagia, pulmonary hypertension, type 1 diabetes, alopecia, celiac disease, juvenile idiopathic arthritis, vitiligo, and Alzheimer disease pathology / early-onset dementia. Life expectancy is 58.6 years. Major causes of mortality are congenital heart disease (in early childhood) and respiratory infections (in childhood and adulthood).
Q90.9 – Down syndrome, unspecified
41040004 – Complete trisomy 21 syndrome
Differential Diagnosis & Pitfalls
- Edwards syndrome (Trisomy 18)
- Patau syndrome (Trisomy 13)
- Wolf-Hirschhorn syndrome – Characteristic facial appearance includes flat nasal bridge and high forehead referred to as "Greek warrior helmet" appearance.
- Angelman syndrome – Clinical clues may include severe language impairment, happy demeanor, hand-flapping, and ataxia.
- Rett syndrome – This is almost exclusively seen in females and characterized by postnatal microcephaly and regression of language and purposeful hand movements in early childhood.
- Williams syndrome
- Smith-Lemli-Opitz syndrome
- Cri-du-chat syndrome (5p minus [5p-] syndrome) – Infants often have a characteristic "catlike" cry.