mulibrey nanism

info · Syndrome

A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.

Signs and symptoms

Short stature
Growth delay
Triangular face
J-shaped sella turcica
Depressed nasal bridge
Wide nose
Hepatomegaly
Weak voice
Frontal bossing
Hypotonia

Also known as: MUL; Mulibrey growth disorder; Muscle-Liver-Brain-Eye Nanism; PERICARDIAL CONSTRICTION AND GROWTH FAILURE; Perheentupa Syndrome