Dubowitz Syndrome (DS) is a rare genetic condition, originally described in 1965, with considerable phenotypic variability suggesting genetic heterogeneity.
Over 200 cases are reported in the literature. DS is characterised by intrauterine and/or postnatal growth failure, microcephaly, mild to moderate cognitive delay, hyperactivity, immune defect, and increased risk of blood dyscrasia (pancytopenia) and malignancy (leukaemia, neuroblastoma). Congenital abnormalities such as heart defects, genital hypoplasia, hypospadia, rectal malformations and skeletal anomalies have been reported. Peculiar but variable morphological facial features are sloping forehead, epicanthic folds, blepharophimosis, ptosis, broad and flat nasal bridge, low-set and poorly-formed ears, micro- and retrognathia; submucous cleft palate and velopharyngeal insufficiency may be present. Ocular and dental abnormalities such as cataract, strabism, hypo-/anodontia have been described. Eczema is also frequent.
Single gene mutations (de novo or biallelic variants) and genomic imbalances have been reported in patients with Dubowitz syndrome clinical phenotypes. Several cases remain without an identifiable genetic cause.
DS is a complex and multisystemic condition and requires a multidisciplinary approach.