Gombo Syndrome

Clinical Features

Verloes et al. (1989) reported a brother and sister and probably a third sib with a seemingly characteristic and previously undescribed syndrome. Microcephaly was severe and there was also microphthalmia, brachydactyly with clinodactyly 5, delayed growth in puberty, and severe mental retardation. The third and probably identically affected sib died at the age of 15 months from the consequences of a complex cyanotic heart defect.

Bottani and Verloes (1995) stated that the condition in the boy reported by Verloes et al. (1989) had been 'very stable' over the previous 8 years; however, the girl died suddenly and unexpectedly, with no autopsy. Bottani and Verloes (1995) suggested that the disorder they described might be the same as the growth-mental deficiency syndrome of Myhre (139210).

Farrell (1997) described a 23-year-old male with microphthalmia, severe developmental delay, conductive hearing loss, marked short stature of prenatal onset, and radiographic skeletal changes. His height was 107 cm (50th centile for 5 years). The facial view at age 23 years looked like that of a young child.

Cytogenetics

Verloes et al. (2000) used subtelomeric probes to reinvestigate the family initially published as GOMBO syndrome by Verloes et al. (1989). They identified a cryptic translocation resulting in 3p monosomy and 22q trisomy. The karyotype was 46,XY,ish der(3),t(3;22)(p25;q13).