Down Syndrome

Down Syndrome

Question. Write short note on trisomy 21.
Or
Write short note on Down’s syndrome.

Answer.

Down’s syndrome

It is also called as Down’s syndrome or Mongolism

• It occurs due to excessive chromosomal material involving a part of chromosome 21 or complete chromosome 21.
• It is the form of a mental retardation which is associated with morphological features and many somatic abnormalities due to number of chromosomal aberrations.
• Trisomy 21 is one of the cytologic variants of Down’s syndrome and occurs in 95% of patients with Down’s syndrome.
• There is typical trisomy 21 with 47 chromosomes.

“Understanding the role of Down syndrome in developmental health: Q&A explained”

Clinical Features Of Down’s Syndrome.

• It occurs in children.
• Mental retardation is present.
• Head appears small, i.e brachycephaly.
• Flat facies are present with hypertelorism.
• Nasal bridge is depressed and there is presence of broad,short neck.
• Presence of narrow, upward and outward slanting of palpebral fisures.
• Ocular abnormalities are seen such as strabismus, cataract and retinal detachment.
• Skeletal abnormalities such as short stature, broad and short hands, feet as well as digits; dysplasia of pelvis; wide gap between fist and second toes.
• Protuberant abdomen, hypogenitalism and delayed and incomplete puberty.

“Importance of studying Down syndrome for better outcomes: Questions explained”

Oral Manifestations Of Down’s Syndrome.

• Macroglossia is present, scrotal tongue is seen.
• Maxilla is hypoplastic.
• Tooth eruption is delayed. Partial anodontia and enamel
  hypoplasia can also be seen.
• High­arched palate is present.
• Cleft lip or cleft palate can be seen.
• Juvenile periodontitis is present.