What are the main characteristics of DiGeorge syndrome? Which appear to bepresent in this tamariki?
Question
What are the main characteristics of DiGeorge syndrome? Which appear to be present in this tamariki?
Solution
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small segment of chromosome 22. The main characteristics of DiGeorge Syndrome can vary among individuals, but typically include:
-
Congenital heart disease: Most individuals with DiGeorge Syndrome are born with a heart defect, such as a hole in the heart, abnormal heart valves, or other complications that affect the heart's rhythm, structure, or function.
-
Specific facial features: These may include a long face, small ears, a small mouth, a short philtrum (the groove between the nose and the upper lip), and a bulbous nose.
-
Thymus gland dysfunction: The thymus gland is part of the immune system, and its dysfunction can lead to a decreased ability to fight infections.
-
Hypocalcemia: This is caused by low levels of parathyroid hormone, which regulates the body's calcium levels. Symptoms can include numbness, tingling, muscle cramps, seizures, and fatigue.
-
Developmental delay and learning difficulties: Children with DiGeorge Syndrome often have delays in reaching developmental milestones and may struggle with learning and behavior.
-
Mental health disorders: These can include attention-deficit/hyperactivity disorder (ADHD), autism, anxiety, and depression.
-
Speech and feeding problems: These can be due to certain physical characteristics, such as palate abnormalities, or due to developmental delays.
To determine if these characteristics are present in a child (tamariki), a detailed medical history, physical examination, and specific diagnostic tests (such as genetic testing) would be needed. The presence of several of these symptoms could suggest DiGeorge Syndrome, but a definitive diagnosis would require genetic testing to identify the chromosome 22 deletion.
Similar Questions
Which of the following can present clinically similar to carpal tunnel syndrome? Thoracic outlet syndrome De Quervain disease Trigger finger Ganglion cyst
What is a severe form of adult hypothyroidism caused by a deficiency of T₃ and T₄ characterized by facial puffiness?
Which one of the following disorders is associated with congenital talipes equinovarus ?
What could lead to the development of a musculoskeletal disorder?
A patient with a disorder of the vestibular system would most likely complain of unsteadiness, nausea, and what other common symptom?
Upgrade your grade with Knowee
Get personalized homework help. Review tough concepts in more detail, or go deeper into your topic by exploring other relevant questions.