Down syndrome

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Down syndrome
Synonyms	Trisomy 21, Down's syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Intellectual disability, distinctive facial features, developmental delays, congenital heart defects
Complications	Heart defects, gastrointestinal disorders, thyroid disorders, leukemia, seizures
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic disorder due to trisomy 21
Risks	Advanced maternal age, having had one child with Down syndrome
Diagnosis	Prenatal screening, karyotype
Differential diagnosis	Other chromosomal abnormalities
Prevention	None
Treatment	Supportive care, educational support, therapy
Medication	N/A
Prognosis	Variable, with life expectancy around 60 years
Frequency	1 in 1,000 births
Deaths	26,500 (2015)

The cognitive and physical symptoms of "'Down syndrome"' are caused by an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate mental retardation. Individuals with Down syndrome typically exhibit distinctive physical characteristics, such as a flattened face, and are susceptible to a variety of health conditions.

Common Nomenclature and Medical Terminology

• Down syndrome
• Trisomy 21
• 47,XX,+21 and
• 47,XY,+21 are examples of medical or scientific terms for this condition.

What is Down syndrome exactly?

The cognitive and physical symptoms of Down syndrome are caused by an extra copy or part of an extra copy of chromosome 21. This additional chromosome disrupts normal development, resulting in the syndrome's physical characteristics and intellectual and developmental disabilities. Intellectual disability varies in severity, but is typically mild to moderate. Typically, children with Down syndrome reach key developmental milestones later than their typically developing peers. They are also more likely to be born with congenital heart defects and to develop hearing and vision issues, Alzheimer's disease, and other conditions.

File:Down Syndrome Karyotype.png

Physiological Signs

Common outward manifestations of Down syndrome include:

• Reduced or inadequate muscle tone
• Abbreviated neck with excess skin in the rear
• nose and facial profile that are compressed
• Microscopic head, ears, and mouth
• Eyes that are slanted upward and frequently have a skin fold from the upper eyelid covering the inner corner of the eye.
• Eyes with white spots on the colored portion (Brushfield spots)
• Hands that are broad, short, and have short fingers.
• A deep, single crease across the palm.
• A pronounced notch between the first and second toes.
• Physical development is typically slower in children with Down syndrome compared to children without the syndrome. Despite these delays, they can eventually reach a number of developmental benchmarks.

File:Feet of a boy with Down Syndrome.JPG

Intellectual and Developmental Manifestations

Cognitive impairments ranging from mild to moderate are typical of individuals with Down syndrome. A short attention span, poor judgment, impulsive behavior, slow learning, and delayed language and speech development are also common cognitive and behavioral issues. Early and ongoing interventions in speech and language are especially beneficial.

Related disorders and conditions

Multiple health conditions, including autism spectrum disorders, hormonal and glandular problems, hearing loss, vision problems, and heart abnormalities, are more prevalent in individuals with Down syndrome.

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