Down syndrome in Infant/Neonate
Patients are at greater risk for atlantoaxial instability, hypothyroidism, constipation, gastroesophageal reflux disease, congenital heart disease, leukemia, impaired immune system, obstructive sleep apnea, and Alzheimer disease pathology / early-onset dementia. Life expectancy is 58.6 years. The major cause of early mortality is congenital heart disease.
For more information, see OMIM.
Q90.9 – Down syndrome, unspecified
41040004 – Complete trisomy 21 syndrome
- 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.
Last Updated: 12/04/2018