Dubowitz Syndrome
What is Dubowitz Syndrome?
Dubowitz syndrome as a genetic disorder is a rare type and is linked with developmental problems. It includes many congenital abnormalities involving but not certainly limited to failure of growth or short height, small head, distinctive features of the face that is uncommon, moderate mental retardation, and about one-half of the known cases is eczema.
There are a number of organ systems that can be affected and its appearance is adaptable. The symptoms are commonly discovered at the time of fetal development inside the uterus and after the immediate birth of the neonate. The condition which is hereditary causes a mental delay of growth before and after birth.
The diagnosis is mostly done through the well-defined facial composition of people who are affected. A few severe cases of this disorder remain undiagnosed and some are just aware of having the condition without doing anything which is not appropriate. About an estimation of 142 cases in the world had been generally recognized and is affecting both the males and females.
What are the Symptoms of Dubowitz Syndrome?
Dubowitz syndrome has a great range of associated clinical symptoms and these include:
- Ptosis which is the drooping of eyelids
- Microcephaly or small head
- Broad gap between eyelids
- Voice can be soft or high-pitched
- Short height
- Small jaw
- Chin that recedes backward
- Fingers and toes with partial webbing
- Autism or behavioral problems
- Intrauterine growth retardation
- Decreased distance in the middle of top and bottom part of eyelids, along with some short eyelids that is widely kept apart
- Dispersed or absence of hair on scalp
Less common manifestations that may still occur among individuals include foot abnormalities, eczema, wide nose, slowed aging of the bones, perpendicular skin fold located at the epicanthic fold, abnormal position of the testes, and signs of mental retardation ranging from mild to severe.
A lot of children with this condition possess normal intelligence, but they tend to have trouble in learning sometimes. The person that is affected might have a moderate retardation, impairment of speech, and hyperactivity. Cognitive reasoning can also occur.
What Causes Dubowitz Syndrome?
Genetic conditions are established by the genes that are combined from a specific trait which are present with the chromosomes taken from the mother and the father. Dubowitz syndrome can occur with an existing defective single gene, which is still not identified yet. Until recently, some researchers believe that the disorder was either passed on as a type of autosomal recessive trait or carried as a copy of an autosomal dominant trait.
Dominant genetic problems take place when one single defective copy of the gene is present in a person. There is a risk of 50% for the impaired gene to be passed on from the parent to its offspring, whether the child is male or female. For recessive gene disorders, the person gets the same defective gene from each of the parent. There is 25-50% chance that the child can have a copy of the problematic gene and about 25% of receiving normal genes.
How is Dubowitz Syndrome Treated?
Dubowitz syndrome treatment is based on its symptoms. Problems of the skin such as eczema can be treated by creams with corticosteroid and a periodic dental care might be required in order to keep away from any dental problems.
For children, a team approach may help which involves physical therapy, unique education, and other services that concerns social, medical, and vocational trainings. Genetic counseling can also be beneficial for people who are affected as well as their families.
Prognosis
Dubowitz syndrome prognosis is very good especially if there is continuous management of underlying medical problems. This condition had never caused shortening of a person’s lifespan or other worsening conditions. These individuals live with a fairly ordinary lifestyle like the others even when most of them have some degree of mental retardation.
Survival Rate
The overall lifespan of a person with Dubowitz syndrome has been remarkably great and there is no need to worry.
References:
1. http://syndrome.org/
2. https://rarediseases.org/rare-diseases/dubowitz-syndrome/
3. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=235
4. Takahira S, Kondoh T, Sumi M, Tagawa M, Obatake M, Kinoshita E, Shimokawa O. et al (2005).
5. Pascual JC, Betlloch I, Banuls J, Vergara G (2005). What syndrome is this? Dubowitz syndrome. Pediatr Dermatol. 22(5):480–481.
6. Oguz KK, Ozgen B, Erdem Z (2003). Cranial midline abnormalities in Dubowitz syndrome: MR imaging findings. Eur Radiol. 13(5):1056–1057.
