Dubowitz syndrome

Autosomal recessive - en

Dubowitz syndrome is a rare genetic disorder characterized by a distinctive facial appearance, growth retardation, and a variety of other anomalies. The syndrome was first described by the British geneticist Victor Dubowitz in 1965.

Clinical Features

Individuals with Dubowitz syndrome typically present with:

• Microcephaly (small head size)
• Growth retardation (both prenatal and postnatal)
• Distinctive facial features, including a small, triangular face, high forehead, broad nasal bridge, and a short, upturned nose
• Eczema and other skin abnormalities
• Developmental delay and intellectual disability
• Behavioral issues, such as hyperactivity and social withdrawal

Genetics

The exact genetic cause of Dubowitz syndrome remains unknown. It is believed to follow an autosomal recessive inheritance pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected.

Diagnosis

Diagnosis of Dubowitz syndrome is primarily based on clinical features. Genetic testing may be used to rule out other conditions with similar presentations. A thorough evaluation by a geneticist is often necessary to confirm the diagnosis.

Management

There is no cure for Dubowitz syndrome, and treatment is symptomatic and supportive. Management may include:

• Regular monitoring of growth and development
• Special education services and developmental therapies
• Treatment of skin conditions such as eczema
• Behavioral therapy and support for social skills

Prognosis

The prognosis for individuals with Dubowitz syndrome varies widely depending on the severity of symptoms and associated complications. With appropriate medical care and support, many individuals can lead fulfilling lives.

Related Pages

• Genetic disorder
• Microcephaly
• Growth retardation
• Developmental delay
• Eczema
• Autosomal recessive

External Links

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