Down syndrome – characteristics in Down syndrome
Contents
- 1 Most commonly seen characteristics in Down syndrome
- 2 Most common endocrine abnormality in children and adults with Down syndrome
- 3 Characteristics in Down syndrome
- 4 Types of Down Syndrome
- 5 Down syndrome – disabilities
- 6 HANDS – Hematological Abnormalities in a Newborn with Down Syndrome
- 7 Characteristics in Down syndrome
- 8 Nuchal translucency
Characteristics in Down syndrome
Most commonly seen characteristics in Down syndrome
[A] Low muscle tone
[B] Stunted growth
[C] Mental impairment
[D] Flexible ligaments
Most common endocrine abnormality in children and adults with Down syndrome
[A] Hypothyroidism
[B] Cushing’s disease
[C] Prolactinoma
[D] Addison’s disease
Characteristics in Down syndrome
| Down syndrome | Percentage |
| Mental impairment | 99% |
| Stunted growth | 90% |
| Umbilical hernia | 90% |
| Low muscle tone | 80% |
Types of Down Syndrome
- Trisomy 21 -Most Common
- Mosaic Down syndrome accounts for – two per cent of Down syndrome cases
- Translocation Down syndrome – accounts for three per cent of cases
Down syndrome – disabilities
- Mental abilities are typically similar to those of an 8- or 9-year-old.
- Down syndrome nearly always have physical and intellectual disabilities
- Very high – Emotional and social awareness
- Increased risk of – congenital heart defect, epilepsy, leukemia, and thyroid diseases
Most common cardiac defect associated with Down syndrome is an atrioventricular septal defect (AVSD), and this defect makes up to 40% of the congenital cardiac defects in Down syndrome
Second most common cardiac defect in Down syndrome is a ventricular septal defect (VSD)
HANDS – Hematological Abnormalities in a Newborn with Down Syndrome
- Neutrophilia
- Thrombocytopenia
- Polycythemia
- HANDS is usually mild and resolves within the first 3 weeks of life
Hypotonia is the hallmark of babies with Down syndrome and is present in almost all of them.
Characteristics in Down syndrome
Nuchal translucency
- Nuchal translucency (NT) is detected by ultrasound
- Caused by a collection of fluid under the skin behind the fetal neck.
- It is done between 11 and 14 weeks of gestation.
- Other causes – trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and Turner syndrome.
About half of the patients with Down syndrome have been shown to have subclinical hypothyroidism with elevated TSH and normal thyroxine levels.
Most common congenital heart abnormality in Downs yndrome –
Most common congenital heart abnormality in Down syndrome Most common congenital heart abnormality in Downs…
