DMOZ Internet Directory : Health : Conditions_and_Diseases : Musculoskeletal_Disorders : Congenital_Anomalies : Dwarfism : Mulibrey

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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.

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Mulibrey Nanism: Clinical Features and Diagnostic Criteria - Karlberg, Jalanko, Perheentupa and Lipsanen-Nyman review symptoms of 85 Finnish patients, and propose new diagnostic criteria for MUL. Patient: Mulibrey Nanism - Factsheet on this rare autosomal recessive disorder, its clinical features, associated diseases and management. Online Inheritance in Man - Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.

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