Recombinant 8 syndrome

Recombinant 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. 

The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears.  People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia), abnormal tooth development, or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media), hearing loss, or hand and finger differences. In individuals with recombinant 8 syndrome, the heart abnormalities can be life-threatening.

Other names

Rec(8) syndrome; Recombinant chromosome 8 syndrome; San Luis Valley syndrome

Inheritance pattern

Autosomal dominant

Source: MedlinePlus Genetics, U.S. National Library of Medicine.