BRESHECK syndrome
BRESHECK syndrome
An X-linked MIM 300404 condition defined by the BRESHECK acronym:Brain anomalies;
Retardation—mental and growth;
Ectodermal dysplasia;
Skeletal defects;
Hirschsprung’s disease;
Ear deformity and deafness/eye hypoplasia;
Cleft palate/Cryptorchidism;
Kidney dysplasia/hypoplasia.
It is similar to BRESEK syndrome but includes Hirschsprung’s disease and Cleft palate/Cryptorchidism. Because both are caused by a mutation in MBTPS2, separation of the two is arbitrary.