Dubowitz Syndrome

Dubowitz syndrome was first identified by Dr. Victor Dubowitz which is a rare genetic disorder. Only few hundred people have developed this syndrome around the globe. This disorder is related to retarded development and stunted growth of the child both before and after birth. It is marked with distinct features of short stature, unusual facial features and small head. Children with Dubowitz syndrome are likely to have some extent of mental retardation. Only certain traits of this disorder can be treated and other features cannot be repaired.

Symptoms :

Children born with Dubowitz syndrome have retarded growth and are short in stature. Their muscles and bone will not grow normally and they have distinct facial features with small head (microcephaly). Such children may develop various skin problems including eczema and their mental growth can also be affected due to this syndrome.

Initial symptoms can be detected in the fetus and also after birth. These children would have under-developed bones, drooping eyelids, lateral eyebrows with long distance between the eyes. They might also have some behavioral problems and they are often shy and stubborn in character. The growth of multiple organs can be affected. Such children have low birth weight and short attention span. Having eye abnormalities are quite common in children with this disorder.

Causes :

Dubowitz syndrome is genetic and caused by autosomal recessive pattern of genes inherited by birth. Both the parents should have mutated genes in them to pass it on to their child. Parents with one child having this syndrome have increased chance to have their next child also affected. Dubowitz syndrome is a rare disorder in which children are born with defective genes affecting normal growth.

Diagnosis :

The doctor can identify children with this syndrome by mere physical examination. Diagnosis can be made even during prenatal scanning.

Treatment :

• Since it is a genetic problem nothing can be done for marked facial features and stunted growth.
• Certain problems like skin itching, chronic constipation and allergies can be controlled using effective medications.
• Experts from various medical fields should work together to manage and repair the obvious symptoms.
• For instance cardiovascular problems and optical issues can be repaired and corrected by surgery.
• Lifespan of affected child would be normal.
• Prognosis of each case is different and depends on the severity of the congenital abnormalities inherited by birth.