31 Days of Awareness: Dubowitz Syndrome
Dubowitz Syndrome
Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal).
Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes(supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy. Less than 200 people in the world are known to have Dubowitz Syndrome.
Diagnosis
There aren't currently any tests that can be performed to fully diagnose this disorder. Diagnosis is made based upon symptoms experienced by the patient. The symptoms can be seen during fetal development or after the baby is born.
Causes
It is thought that this disorder is an autosomal recessive disorder, which is inherited by parents. Autosomal recessive means that both parents have to carry the mutated gene, and they both pass the gene onto the child.
Treatment
There is not a known cure for this disorder. Physical therapy, speech therapy, medication for seizures and hyperactivity commonly help some symptoms. Treatment varies per person based on the severity of their disorder and symptoms experienced. Creams can be prescribed to treat the eczema, and surgeries can be done to correct abnormalities.
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