Dubowitz Syndrome
From WikiGenetics
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[edit] Definition
A rare genetic disorder that results in micocephaly (abnormal smallness of the head associated with congenital incomplete brain development), slow growth, and distinctive facial characteristics.
[edit] Description, Signs and Symptoms
Symptoms vary among those affected with Dubowitz syndrome, but may include:
- Characteristic facial appearances: small, triangular shaped face with a pointed, drawn-back chin, broad and wide-tipped nose, and wet-set eyes with drooping eyelids
- soft, high-pitched voice
- partially webbed fingers and toes
- palate deformations
- genital abnormalities
- eczema
- hyperactivity
- language difficulties
- mental retardation or developmental delays, neurologically
Dubowitz syndrome is accompanied by a growth hormone deficiency, which is apparent in the short stature of those affected. This is most likely the cause of a genetic disorder or disruption of brain structures due to incomplete brain development.
[edit] Inheritance
The specific cause of Dubowitz syndrom is currently unknown but it is strongly believed that it has some genetic component. It is thought to be an autosomal recessive disease, and in some cases there is a parental consanguinity. Some cases of Dubowitz syndrome have occurred in monozygotic twins, siblings, and cousins. Although it is classified as a recessive trait that can be expressed to cause symptoms associated with the condition, there have been phenotypic variations among known cases.
[edit] Demographics
About 140 cases have been reported worldwide since 1965, the majority of which have been reported from the United States, Germany, and Russia. However, this condition appears to affect individuals of all ethnicities and genders equally.
[edit] Diagnosis
No medical tests currently exist that can definitely diagnose Dubowitz syndrome. Diagnosis is generally made through clinical identification of the physical characteristics associated with the condition, such as the distinctive facial appearances.
[edit] Treatment and Management
While there is no treatment for this condition, support groups and counseling are beneficial to patients and families.
