Symptoms and Treatment of Digeorge Syndrome

Symptoms of Digeorge Syndrome

The symptoms of digeorge syndrome change greatly between individuals. The baby's eye defects may head to eye bankruptcy, or there may be seizures and new evidence of a reduced degree of calcium in the blood. Babies with digeorge syndrome are born with a kind of distinct problems, some or all of which may be existing to varying degrees. The parathyroid glands in the neck may have failed to develop, leading to low levels of calcium in the blood. This can result in muscle spasms and seizures. There may be a typical facial appearance with a small jaw, small, low-set ears with abnormal folds, unusual eyes, small mouth, a rather bulbous nose and square nasal tip, and hypernasal speech with a cleft palate. Sometimes the syndrome won't be detected until later in infancy, especially when problems are mild. Sometimes babies with digeorge syndrome have no detectable chromosome abnormality.

Treatment of Digeorge Syndrome

Diseorge anomaly usually is diagnosed shortly after birth because of abnormal facies or cardiac manifestations. Digeorge syndrome can't be cured, but treatment of problems such as low calcium, surgery for heart problems and thymus cell transplants to restore the immune system can reduce complications. Prenatal testing for Digeorge syndrome is widely available and is recommended for fetuses that have been detected as having cleft palate or heart malformation through ultrasound, and have at least one parent testing positive for the 22q11 microdeletion. Hypoparathyroidism and hypocalcemia are managed with calcium supplements and vitamin D administration. The goals of pharmacotherapy are to prevent calcium deficiency, reduce morbidity, and prevent complications. Severe cases have been treated by transplantation of fetal thymus tissue or bone marrow.

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What is Digeorge Syndrome?

DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies.

The cause of DiGeorge syndrome has been identified as a submicroscopic deletion of chromosome 22 in the DiGeorge chromosomal region. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome.

People with DiGeorge syndrome may have the following congenital heart lesions: tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, aberrant left subclavian artery, right infundibular stenosis, or ventricular septal defect. 74% of patients with 22q11 syndrome have conotruncal malformations. 69% of patients are found to have palatal abnormalities including velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate.

Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Not all people with a 22q11 microdeletion display all, or indeed, any, of these characteristics.

Immune deficiency of varying severity, hypocalcemia (which may lead to seizures) and hypoparathyroidism are some of the most prominent features of DiGeorge, (although not of Shprintzen syndrome which is characterized more by cleft palate and speech difficulties). The thymus gland and parathyroid glands are malformed and dysfunctional or missing altogether in a classic DiGeorge syndrome case. Learning disorders and developmental delay effect 70% - 90% of individuals with DiGeorge syndrome.

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