Tyshchenko Syndrome

Clinical Features

Tyshchenko et al. (2011) reported 3 patients, a mother and daughter and an unrelated male, with a syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears. The male patient also had an atrial septal defect, bilateral cryptorchidism, and a first-degree hypospadias.

Inheritance

Tyshchenko et al. (2011) suggested that the syndrome they described in a mother and daughter and an unrelated male was inherited in an autosomal dominant manner.