The Characteristics of Dubowitz Syndrome: a Rare Developmental Disorder

Babies are born with birth defects every day.  Some are very mild and others may be physically and mentally debilitating.  Most birth defects occur no matter how much you take care of yourself while pregnant.  Every mother feels like it’s her fault if the baby is born with serious birth defects, but unfortunately sometimes it just happens.  That’s the case with Dubowitz syndrome.

Dubowitz syndrome is a very rare genetic and developmental disorder that causes growth retardation before and after birth.  Dr. Victor Dubowitz, an English physician, first described it in 1965.   Dr. John Opitz described it again later.  It is currently described as being inherited through an autosomal recessive pattern, but current research is challenging it.  Autosomal recessive means that both parents have to carry the mutated gene.  Dubowitz syndrome is often accompanied by a deficiency in the growth hormone.

Dubowitz syndrome is present from the very beginning of the fetus development and is characterized by slow grow, small head and characteristic facial features such as sparse hair, flat underdeveloped bones above eyes, increased distance between eyes, drooping eyelids, sparse lateral eyebrows, small lower jaw and a receding chin.  Other signs and symptoms of the disorder are mild mental retardation, low birth weight, hyperactivity, high-pitched voice, short attention span and speech delay.  Approximately half of those who suffer from the disorder will also have eczema. 

 A child who has Dubowitz syndrome is also likely to have a weak immune system.  This will cause them to get infections repeatedly and they will be more prone to conditions like hypogammaglobulinema, IgA deficiency, aplastic anemia, acute lymphatic leukemia, lymphoma and neuroblastoma.

Currently no medical tests can correctly diagnose Dubowitz syndrome.  Diagnosis is usually made through identifying the physical characteristics of the syndrome, like the facial appearance.  A pediatric geneticist plays a very important role in obtaining an accurate diagnosis especially when the syndrome is very mild or the symptoms are a little different in some way from other cases of the syndrome.

The treatment for the disorder is targeted at each individual symptom.  Creams are given if the child has eczema and surgeries can correct abnormal facial features and cardiovascular affects.

Dubowitz syndrome is often mistaken for Bloom syndrome and Fetal Alcohol syndrome. The syndrome is also very similar and may be linked to Smith-Lemli-Opitz syndrome.

The majority of Dubowitz syndrome cases have been reported in the United States, Germany and Russia.  Approximately 142 cases have been reported worldwide.  The disorder affects all races and males and females equally.

Dubowitz syndrome may not be as rare as it was once thought.  It may just be under diagnosed.  There is not enough awareness about the syndrome to correctly diagnose everyone who has it and less severe cases usually go undiagnosed.