Dubowitz Syndrome

What is Dubowitz syndrome?

This is a development and genetic disorder that involves multiple inherited abnormalities including but not necessarily narrowed to:


  • Short stature or failure to grow
  • Unusual but distinctive facial features
  • Small head
  • Mild mental retardation
  • Eczema in at least one-half of the cases

Organ systems affected are multiple and this disorder is random and very adaptable in its appearance. Symptoms might be detected while the fetus is intrauterine as well as neonatally.

This syndrome was defined first by physician Dr. Victor Dubowitz in 1965. This disorder which is genetic causes retardation of growth both before and after birth. It is mostly diagnosed thru the distinct facial structures of individuals who are affected.

This syndrome may not be as rare as it was once believed. It is believed that it might only be a case of this disorder being under diagnosed. The awareness of this disorder is simply not enough to appropriately diagnose everyone who has it and less severe cases usually go undiagnosed. The incidence of this disorder that has been established only amounts to approximately 142 cases worldwide.

Dubowitz Syndrome Symptoms

This list of symptoms and signs cited in various medical literature includes the symptoms below:

  • Low birth size
  • Fetal growth retardation
  • Low birth weight
  • Small head circumference
  • Growth retardation
  • Hyperactivity
  • Osseous maturation retarded
  • Short attention span
  • Shyness
  • Mental retardation mild to severe
  • Stubbornness
  • Short attention span
  • Reduced muscle tone
  • Small face
  • Supraorbital ridge is swallow
  • Head that is small
  • Short palpebral fissures
  • Tip of nose broad
  • Flat nasal bridge
  • Lateral telecanthus
  • Drooping upper eyelid
  • Eyes are wide-set
  • Blepharophimosis
  • Prominent ears
  • Epicanthal folds
  • Dysplastic ears that is mild
  • Lower jaw small
  • Facial skin eczema
  • Sparse scalp hair
  • Flexural areas eczema
  • Delayed teeth eruption
  • Dental caries
  • Syndactyly of second toes
  • Brachyclinodactyly of fifth fingers
  • Hair is sparse on lateral eyebrows
  • Syndactyly of third toes
  • Eye abnormalities
  • Undescended testes
  • Tapetoretinal degeneration
  • Strabismus
  • Farsightedness
  • Small eye
  • Megalocornea
  • Abnormalities of the ocular fundus
  • Coloboma
  • Hypoplasia of iris
  • Abnormal ocular fundus veins
  • Ocular albinism

In spite of the head size being small of children with this syndrome, delayed development is not always observed in every case. The estimate of incidences of delayed development in these cases range from 30% to 70% with the majority of cases having mental retardation that is quite mild.

Numerous behavioral features have been defined by parents of these children as well as in the medical literature. These can include:

  • Hyperactivity that is extreme
  • Temper tantrums with problems self-calming
  • Predilection for concrete thinking rather than thinking in the abstract
  • Difficulties with language
  • Shyness with crowd aversion
  • Affection for rhythm and music

This syndrome is often linked to a deficiency in growth hormone.

Causes

This syndrome is passed on thru an autosomal recessive pattern of inheritance. Autosomal means that this disorder is not found on a sex chromosome, while recessive indicates that both parents must have the gene mutation for their child to have this syndrome. Parents who have one (1) child who is affected with this syndrome have odds of 25% that their next baby will have the disease.

The precise gene mutation that is accountable for this syndrome has not been identified. One (1) of the symptoms of Dubowitz syndrome consists of the displacement of chromosomes.

Cases of this syndrome have been seen from multiple different regions of the world with the greatest number occurring in the United States, Russia and Germany. There does not seem to be any ethnic pattern to the incidences of this syndrome. Dubowitz appears to be in males and females equally.

Treatment

There are numerous chronic medical problems linked with Dubowitz syndrome. They include:

  • Skin itching and inflammation – eczema
  • Vulnerability to viral infections
  • Allergies
  • Chronic constipation or diarrhea
  • Difficulties feeding and vomiting

These are conditions that should be individually managed with treatments that are appropriate. For instance, creams for the skin containing corticosteroid medication are used in treating eczema.

Other problems physically due to Dubowitz syndrome, for instance cardiovascular defects, or drooping eyelids – ptosis may be corrected surgically.

Diagnosis

Because the genetic reason is not known, there is no precise medical test that will conclusively consign the diagnosis of Dubowitz syndrome. This diagnosis is normally based on the appearance of facial characteristics of the individual who is affected as well as other aspects for instance data on growth and medical history. The diagnosis can easily be missed when the physician is unfamiliar with pediatric genetic conditions. Usually a pediatric geneticist will play an important role in having an accurate diagnosis especially when the syndrome is very mild or the symptoms are a little different in some way from other cases of this syndrome.

Prognosis

Concerning the prognosis for individuals with this syndrome it is very good providing that the managing of medical situations is continued. Dubowitz syndrome has not been informed to cause any shortened of a person’s lifespan or any deteriorating conditions. Individual with this syndrome may anticipate living to adulthood and leading a fairly ordinary lifestyle, even when the majority will have some level of mental retardation.

Life Expectancy

The prognosis for an overall normal life span is good.

Dubowitz Syndrome Pictures

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