BRESHECK syndrome Q87.-

BRESEK/BRESHECK syndrome is an X-linked malformation syndrome characterized by multiple congenital anomalies, brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and kidney anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.

This syndrome has been observed in <10 male patients to date.

Caused by mutations in the MBTPS2 gene

Patients with X-linked syndrome of ichthyosis follicularis with atrichia and photophobia may have several features of BRESEK/BRESHECK syndrome such as: mental retardation, spinal and renal anomalies and Hirschsprung's disease.

1. Naiki M et al (2012) MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A 158A:97-102.
2. Strong A et al (2022) A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response. Am J Med Genet A188:463-472.