Dubowitz syndrome

Background

The features associated with Dubowitz syndrome include microcephaly, delayed development, short stature, mild learning difficulties (see entry Learning Disability) with behaviour problems and eczema. Individuals with Dubowitz syndrome may show some or all of these features and furthermore may be differently affected by the severity of their symptoms. Symptoms may be so mild that they suggest a diagnosis of Dubowitz syndrome in these individuals.

Credits

Medical text written October 2003 by Contact a Family. Approved October 2003 by Professor M Patton. Last reviewed April 2008 by Professor M Patton, Professor of Medical Genetics, St George’s Hospital Medical School, London, UK.

What are the symptoms?

Some degree of intellectual impairment is usually present in individuals with Dubowitz syndrome. Levels range from profound learning difficulties to normal ability. Characteristic behaviour patterns include hyperactivity, shyness and stubbornness. There is anecdotal evidence of an association between autism (see entry Autism spectrum conditions) and Dubowitz syndrome. However, no formal psychological studies have been undertaken to confirm or refute this association.

Individuals with Dubowitz syndrome have normally proportioned bodies although they may be shorter than average for their age. Babies born with a normal weight are commonly severely delayed in their growth.

A characteristic facial appearance is probably the most typical feature of Dubowitz syndrome. The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.

A range of other features associated with Dubowitz syndrome may include eczema, frequent infections (primarily viral), allergies, vomiting, and chronic diarrhoea or constipation.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Dubowitz syndrome is inherited as an autosomal recessive trait. However, the gene or genes associated with the clinical features of this condition have not yet been identified. There is currently no genetic or biochemical test to confirm a diagnosis of Dubowitz syndrome.

Prenatal diagnosis
None available.

Is there support?

There is no support group for Dubowitz syndrome in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Dubowitz syndrome.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect to other families via our closed Facebook group

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