Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Dubowitz syndrome is a rare, inherited, genetic disorder that is characterized by unique facial features, growth delay while the fetus is still in the uterus (intrauterine), mental retardation, and eczema.

Who

About 150 cases of Dubowitz syndrome have been reported. It occurs in males and females, and in all ethnicities. Both familial and sporadic cases (no other family member is affected) have been reported.

Signs and Symptoms

Children with Dubowitz syndrome may exhibit the following features:  Growth/Development: delayed growth, short stature, and mild mental retardation. The growth delay usually starts before birth. There may also be delayed bone development and joint problems. Older children may have behavioral problems. During infancy, there may be feeding difficulties and episodes of vomiting and diarrhea.  Head and Neck: high, sloping forehead, sparse hair, abnormally formed ears, drooping eyelids, a broad nose, and small jaws. There may be a cleft palate and dental abnormalities. The size of the head is often small (microcephaly) and in some cases, the bones of the head may have prematurely fused (craniosynostosis), causing the face to seem asymmetrical.  Hand and Foot: small hands with fingers that are short, webbed, and abnormally curved. The feet can also be small and inverted, with toes that have similar malformations.  Skin and immune system: eczema, which is inflammation of the skin (the skin may be red and itchy). The skin can also be dry, sensitive to light, and have changes in pigmentation. Individuals with Dubowitz syndrome may be more prone to recurring infections, allergies, and cancer, in a few cases.  Less frequent signs and symptoms: Dubowitz system may cause malformations of structures of the brain and nervous system, which can cause seizures (convulsions of the body). It can also cause heart defects and breathing problems. Dubowitz syndrome can cause malformations of the chest, abdomen (umbilical hernia), and reproductive tract (for instance, the testes may not fully descend in males).

Possible Causes

The specific gene defect that causes Dubowitz syndrome has not been identified yet. This syndrome may be associated with instability of certain chromosomes. Some researchers suggest that Dubowitz syndrome may be an autosomal recessive type of genetic disorder. This means that both parents have at least one defective copy of the gene causing the syndrome, and that the affected child inherited two defective copies, one from each parent.

Diagnosis

Dubowitz syndrome is diagnosed by recognition of the characteristic appearance and other clinical features. Signs and symptoms such as growth delay can be caused by many disorders, so doctors may have to perform many tests in order to diagnose Dubowitz syndrome. These tests include blood and urine analyses, and imaging studies in the form of CT (computerized tomography) scans to better delineate facial anatomy.

Treatment

Individuals with Dubowitz syndrome can be followed by a team of doctors, with a treatment plan depending on which signs and symptoms are present. The general pediatrician, endocrinologist, and gastroenterologist can help follow growth and feeding problems; a dermatologist can help treat eczema and other skin conditions; a neurologist/psychiatrist can help follow seizures, headaches, and behavioral problems; and an early intervention program can provide resources such as speech, physical, and occupational therapy. Regular physical exams, blood tests, and urine analyses are recommended, in addition to regular vision and hearing screenings. Plastic or reconstructive surgery may be helpful for craniofacial and hand/feet abnormalities.

Prognosis

Since there have only been a few cases of Dubowitz syndrome, the prognosis of this syndrome is not well known and depends on the signs and symptoms each individual endures. If there are not significant problems in areas like the heart, lungs, and brain, the lifespan may be relatively normal.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Dubowitz Syndrome Support Yahoo Group
Through this online support group, you can contact other families affected by Dubowitz syndrome and find resources that may be useful for you.

Dubowitz Syndrome Support Group
This group provides educational resources, a list of useful web-links, and also provides support for families. Dubowitz Syndrome Parent Support Network P.O. Box 2441 Vincennes, IN 47591 Phone: (812) 886-0575 Email: inattic@aol.com Dubowitz Syndrome Support c/o 106 Verndale St., Warwick, RI 02889 Phone: (401) 737-3138 Email: flamingo@ids.net Dubowitz Syndrome Information and Parent Support E-mail: bobbie@dubowitz.org or kim@dubowitz.org

Google Search for Dubowitz Syndrome

References and Sources

www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223370 www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome272.html www.orpha.net/data/patho/GB/uk-dubowitz.pdf www.ric.edu/uap/dsyndrome/whatis.html