Blog 1: What is Down Syndrome?

by Dr. M Sanjeev Kumar
MBBS, MS, M.Ch Neurosurgery

Down syndrome or Down’s syndrome is a common chromosomal abnormality that occurs when a person has a part or a full extra copy of chromosome 21. It is also known as trisomy 21.

Down syndrome is the most common congenital anomaly involving a physical, mental, and functional issues. It includes increased risks of health problems due to the presence of a third gene instead of the normal two chromosomes 21.

Down syndrome is a genetic disorder resulting in alterations in facial appearance and health problems. Its symptoms can greatly vary from child to child, and some kids may need a lot of medical treatment, while others lead healthy lives.

Types of Down syndrome

There are three types of Down syndrome,

• Trisomy 21
• Translocation Down syndrome
• Mosaic Down syndrome

Down syndrome symptoms

• Distinctive facial features, such as
  • Small head
  • Flattened face
  • Short neck
  • Protruding tongue
  • Palpebral fissures – Upward slanting eye lids
• Congenital heart defects
  • Defect in the atrioventricular septum (AVSD)
  • defect in the ventricle septum (VSD)
  • Second atrial malformation
  • Tetralogy of Fallot
  • Isolated PDA
• Gastrointestinal (GI) abnormalities
  • Hirschsprung disease
  • blockage in the intestines
  • Atrophic duodenum
  • Punctured anus
  • stomach acid reflux (GERD)
  • persistent constipation
  • Intermittent diarrhea
  • Celiac disease
• Hematological disorders
  • Transient abnormal myelopoiesis (TAM) or transient leukemia
  • Neutrophilia
  • Thrombocytopenia
  • polycythemia

• Neurologic Disorders
  • Intellectual disability
  • Less concentration
  • Seizures
  • Myoclonic seizures
  • Lennox-Gestaut syndrome
  • Dementia
  • Alzheimer disease
  • Learning disability
  • Excessive flexibility
• Endocrinological Disorders
  • abnormal thyroid function
  • Hypothyroidism
  • Hyperthyroidism (rare)
  • Delayed puberty
  • first-order hypogonadism (in girls)
  • Small testes, poor sperm counts, ambiguous genitalia, micropenis, and reduced pubic hair are all symptoms of cryptorchidism. (In males)
• Musculoskeletal Disorders
  • Hypotonia (decreased muscular tone)
  • Fractures are more likely to occur when bone mass is reduced.
  • Vitamin D deficiency
  • growth slowdown
  • Short height
  • Broad, short hands
  • tiny hands and feet, short fingers
• Refractive Errors and Visual Abnormalities
• Otorhinolaryngological ( ENT) Disorders