A 31-year-old member asked:
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what are the symptoms of digeorge syndrome?

2 doctor answers
Dr. Steven Neish
37 years experience Pediatric Cardiology
22q11.2 deletion: Wide variation including congenital heart disease (conotruncal abnormalities), cleft palate, t cell deficiency (thymic hypoplasia/aplasia), parathyroid deficiency (hypocalcemia), learning difficulties, and schizophrenia.
Answered on Jul 26, 2020
Dr. Heidi Fowler
24 years experience Psychiatry
Digeorge Syndrome: Per Mayo Clinic- there can be problems with hearing, vision, breathing, renal function, immune function, facial abnormalities, cardiac problems, cleft palate & lip, learning & mental issues & shorter stature than other family members.
Answered on Jul 26, 2020

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A 38-year-old member asked:
Dr. James Ferguson
45 years experience Pediatrics
Possibly: Since this process involves more than one defect, not all will show the same features. Most are mild & could be picked up by those knowledgeable of sy ... Read More
A 45-year-old member asked:
Dr. Bachar Al-Alami
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Chromosomal deletion: Low set and posteriorly rotated ears, ocular hypertelorism, and a bulbous nasal tip.Long face with a prominent nose the facial features in dgs often ... Read More
A 44-year-old member asked:
Dr. Jason Adler
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DiGeorge Syndrome: Patients with digeorge syndrome may have abnormal facial features including a prominent nose, a hole in the roof of their mouth (cleft palate), proble ... Read More
A 37-year-old member asked:
Dr. Joseph Bouvier
24 years experience Pediatrics
See below: Digeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems ... Read More

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