Signs and Symptoms
Low birth weight commonly seen in children born with Dubowitz syndrome. Due to deficiency in growth hormones, affected children suffer from stunted growth. The unidentified genetic mutation may have caused malformation or damage to the pituitary gland which produces growth hormone. It may also affect the hypothalamus, the part of the brain that regulates hormone production in the pituitary gland.
Infants born with the disorder have smaller than normal head circumference, or microcephaly, usually as the result of improper brain development.
The primary way in which the disorder is recognized is through facial symptoms. Affected individuals have small face which is often triangular in shape with a pointed, receding chin. They also have broad wide-tipped nose, broad and sloping forehead, and wide-set eyes with drooping eyelids.
Mental retardation is not observed in all cases of Dubowitz syndrome despite the small head size. Roughly 30 to 70 percent of affected individuals have mild mental retardation.
People with the disorder have also extreme hyperactivity, seizures, temper tantrums, language difficulties, shyness, fondness for music and a preference for concrete thinking rather than abstract thinking. Other symptoms include eczema, palate deformations, genital abnormalities (e.g. undescended testicles), sparse hairs, partial webbing of fingers and toes, gastroesophageal influx and soft, high pitched cry or voice.