<unk>  is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by<unk>  and<unk>  in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced normal genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated.
Abruzzo–Erickson syndrome
XMEN disease
Fanconi–Bickel syndrome
Smith–Fineman–Myers syndrome
Schwartz–Matsuo syndrome
Sanjad-Sakati syndrome
MELAS syndrome
Fitzsimmons–Guilbert syndrome