Dubowitz syndrome

Dubowitz syndrome is an autosomal recessive hereditary disease first described in 1965. 

The syndrome is characterized by dwarfism, mental retardation, characteristic physiognomy and a tendency to eczema, immunodeficiencies and malignancies. In addition, various other symptoms are also possible, varying from patient to patient.

Those affected are born after a mostly normal pregnancy with prenatal dystrophy. Typical abnormalities of the head includes microcephaly, thin hair, a flat forehead, a broad nose, blepharophimosis, ptosis, telecanthus, epicanthus, deep seated ears, a large mouth, microgia, malocclusions and occasionally a cleft palate.

Infants often suffer from nutritional problems, failure to thrive and chronic diarrhea.

The prognosis of the patients depends on the frequency of the occurring malignancies.