Mulibrey nanism (muscle-liver-brain-eye nanism, pericardial constriction & growth failure)

Introduction

Named mulibrey nanism for muscle, liver, brain, & eye.

Pathology

• raised venous pressure due to pericardial constriction with consequent hepatomegaly
• involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene
• hypoplasia of various endocrine glands causing hormonal deficiency are common

Genetics

• autosomal recessive
• caused by mutations in TRIM37 gene

Clinical manifestations

• growth failure evident at birth
• triangular face often with hydrocephaloid skull
• muscular hypotonia
• peculiar voice
• yellowish dots & pigment dispersion in the ocular fundi
• 2/3 of patients have cutaneous nevi flammei
• 1/3 have cystic dysplasia of the tibia

Radiology

• J-shaped sella turcica

More general terms

• genetic syndrome (multisystem disorder)
• dwarfism (nanism)

Additional terms

• E3 ubiquitin-protein ligase TRIM37; tripartite motif-containing protein 37; mulibrey nanism protein (TRIM37, KIAA0898, MUL, POB1)

Database

• OMIM: https://mirror.omim.org/entry/253250