DiGeorge Syndrome – Symptoms, Causes

September 2, 20130 Comments

DiGeorge Syndrome is characterized by deletion of chromosome leading to poor development of body systems. Very often heart problems, poor immunity and behavioral disorders are seen in children with this syndrome. Some children may have severe symptoms involving vital organs of the body. DiGeorge syndrome is also known as 22q.11.2 deletion syndrome, velo-cardio facial syndrome which is primarily caused by the defective chromosome number 22.

DiGeorge Syndrome Symptoms

Symptoms vary widely in type and severity and this depends on which of the body systems are affected and with what intensity they are affected. For most of the children symptoms will be evident by birth but for others it will appear during early childhood.

The skin of affected child will be blue or reddish blue due to lack of oxygen in the blood or cyanosis. On account of this deficiency the child will be weak or get tired easily. He may not gain weight like normal children and the mother will have great difficulty in feeding the child, since the baby will not have capacity to suck and swallow the milk. There will be frequent infections on his body due to poor immunity and due to poor muscle tone there will be spasms or twitching on the hands and arms.

The children with DiGeorge syndrome are marked with developmental delay like delay in crawling, walking etc, and delay in talking. There will be persistent learning problems in such children. The child will have cleft palate or similar problems with palate (oral cavity). In addition the child will have wide eyes, narrow ears and narrow groove on the upper lip. Often there can be neurological problems in many children with this disorder causing seizures.

Causes Of DiGeorge Syndrome

DiGeorge syndrome or deletion of chromosome 22 is caused by defective genes by birth. Every normal child will have two copies of 22nd chromosome which contains on average 500-800 genes. But a child with this syndrome will have only 30-40 genes on the chromosome 22. Some children will have short deletion of the genes and many will have very less count of genes on this chromosome. This deletion of genes can occur either from the father or from the mother and this is reflected in the early stages of fetal development. Hence there will be deletion of genes in all the cells formed by this chromosome 22.

Complications :

Since chromosomes and genes play vital role in development of cells, the children with DiGeorge syndrome will have severe developmental problem and various abnormalities.

  • Heart Disease : The children with this disorder will have multiple problems in his heart like ASD/VSD due to poor supply of oxygenated blood. He may be born with hole in the lower chambers or with one large vessel in the place of two vessels.
  • Thyroid Problem : There will be four parathyroid glands in every child found below the neck which is responsible for producing thyroid hormone and development of body parts. In children with this syndrome parathyroid glands will be much smaller than regular ones resulting in poor immunity of the body leading to various types of infections.
  • Dysfunction of Thymus Gland : Thymus gland is found below the breastbone where “T” cells are located (main role in fighting infections). A child having DiGeorge Syndrome will have small sized thymus gland making him prone to infection.
  • Cleft Palate : There will be a wide opening in the roof of the mouth for children with this syndrome. This would eventually cause feeding/eating problems and speech problems later.

Apart from the above physical abnormalities, there can be poor functioning of brain causing learning and behavioral problems. These children will have ADHD, autism or other learning problems. Further there can be vision problems and kidney malfunction in such children.

Tests :

The doctor will confirm the diagnosis after making the chromosomal test (deletion of genes) for the affected child.

Images, Pics, Photos and Pictures of DiGeorge Syndrome :

DiGeorge Syndrome DiGeorge Syndrome DiGeorge Syndrome DiGeorge Syndrome

Treatment :

Since DiGeorge syndrome is a genetic disorder, it cannot be cured by any medicine. Only symptoms can be managed by medications, therapy and surgery. A team of health care specialists are needed for correcting/repairing and monitoring the child’s development. Heart problems like Ventricular Septal defect can be corrected through surgery. Parathyroid problems can be controlled by giving calcium supplements and vitamin D supplements.

There can be frequent infections for the child which has to be treated by antibiotics. Since immune function will be poor during early childhood there can be cold infection and ear infection for the child. Cleft palate can be corrected by dental surgery. In addition the child should be given therapy for speech, walking and learning. He should attend behavior therapy classes for developing social skills gradually. Psychotherapy and medicines are to be given for correcting attention deficit problems, autism and depression/anxiety problems. Coping and support is absolutely necessary for upbringing such children.

Prevention :

Genetic counseling can be done for the parents who have defective chromosomes to avoid getting pregnant.

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