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.
Victor Dubowitz first described Dubowitz syndrome in 1965. The disease is an autosomal recessive hereditary disease.Malformation-retardation syndrome is characterized by dwarfism, mental retardation, characteristic physiognomy and a tendency to eczema, immunodeficiencies and malignancies. In addition, the syndrome occurs with various other symptoms. These vary from patient to patient.
The victims are born after a mostly normal pregnancy with prenatal dystrophy. Typical features of the head include microcephaly, thin hair, flat forehead, broad nose, blepharophimosis, ptosis, telecanthus, epicanthus, low-pitched ears, large mouth, microgia, malocclusions and occasionally cleft palate.Sufferers often suffer from nutritional problems, well-being and chronic diarrhea.
The prognosis of patients depends on the frequency of malignancies. & nbsp;