Mulibrey Nanism Genetic Disorders Conditions and Diseases

Mulibrey nanism (MUscle-LIver-BRain-EYe nanism) is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene. Mulibrey nanism is inherited autosomally recessively, and is characterized by prenatal-onset growth failure, constrictive cardiopathy, hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the retinal midperiphery, and typical appearance.

• Top/Regional/Europe/Finland/Health/Conditions and Diseases

• Online Inheritance in Man - Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.
• Mulibrey Nanism: Clinical Features and Diagnostic Criteria - Karlberg, Jalanko, Perheentupa and Lipsanen-Nyman review symptoms of genetic disorders 85 genetic disorders Finnish patients, and propose new diagnostic criteria genetic disorders for MUL.[PDF]

   MySQL - Cache Direct