Dubowitz Syndrome
Definition
Dubowitz syndrome is a genetic disorder defined by slow growth, a characteristic facial appearance, and a small head.
Description
Dubowitz syndrome was first described in 1965 by the English physician Dr. Victor Dubowitz. This genetic disorder causes growth retardation both before and after birth. It is primarily diagnosed through the distinctive facial features of affected individuals, including a small triangular-shaped face with a high forehead and wide-set, slitted eyes. A number of other symptoms, most commonly irritation and itching of the skin (eczema), may be present in infants born with Dubowitz syndrome.
Genetic profile
Dubowitz syndrome is passed on through an autosomal recessive pattern of inheritance. Autosomal means that the syndrome is not carried on a sex chromosome, while recessive means that both parents must carry the gene mutation in order for their child to have the disorder. Parents with one child affected by Dubowitz syndrome have a 25% chance that their next child will also be affected with the disease.
The specific gene mutation responsible for Dubowitz syndrome had not yet been identified.
Demographics
Cases of Dubowitz syndrome have been reported from many different regions of the world with the majority coming from the United States, Germany, and Russia. There does not appear to be any clear-cut ethnic pattern to the incidence of the syndrome. Dubowitz syndrome appears to affect males and females with equal probability. The overall incidence of the disorder has not been established since it is very rare. Only about 142 cases have been reported worldwide.
Physical characteristics
The symptoms of people diagnosed with Dubowitz syndrome vary considerably. However, the most common physical characteristics associated with Dubowitz syndrome are growth retardation, characteristic facial appearance, and a very small head (microcephaly). A wide variety of secondary physical characteristics may be present.
GROWTH RETARDATION Children born with Dubowitz syndrome usually have a low birth weight. Slower than normal growth continues after birth. Even if the infant is born in the normal range, the height and weight gradually falls toward the low end of growth curves during childhood. However, Dubowitz syndrome is not a form of dwarfism, because affected individuals have normally proportioned bodies.
FACIAL APPEARANCE The characteristic facial appearance of people with Dubowitz syndrome is the primary way in which the disorder is recognized. The face is small and often triangular in shape with a pointed, receding chin. The nose is broad with a wide or rounded tip. The eyes are set far apart and sometimes appear slitted due to a decreased distance between top and bottom eyelids or a drooping top eyelid. The forehead is high, broad, and sloping. Eyebrows and hair are thin or absent. The ears may be abnormally shaped or placed.
MICROCEPHALY Infants born with Dubowitz syndrome have primary microcephaly, or a small head size at birth. By definition, in microcephaly the circumference of the head is in the second percentile or less, meaning that 98% or more of all infants have a larger head circumference than an infant with microcephaly.
OTHER PHYSICAL CHARACTERISTICS There are many other physical characteristics that have been
- A soft or high-pitched cry or voice
- Partial webbing of the toes
- Cleft palate or less severe palate malformations
- Genital abnormalities, including undescended testicles
- Gastroesophophageal reflux
- Inflammation and itching of the skin (eczema)
