Health Conditions and Diseases Musculoskeletal Disorders Congenital Anomalies Dwarfism Mulibrey Nanism
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. [PDF]
Online Inheritance in Man
Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.
Patient: Mulibrey Nanism
Factsheet on this rare autosomal recessive disorder, its clinical features, associated diseases and management.
Last update:September 26, 2015 at 3:39:36 UTC