Autoszomális recesszív
Caused by loss of function of both copies of TRIM37.
Tünetek és jelek
Short stature beginning before birth, with dysmorphic features, is typical. Constrictive pericarditis (stiffening of the sac around the heart) develops in about one in five people and is the most serious anomaly of the disease. Less often there is liver disease, such as fatty liver or fibrosis, type 2 diabetes, or an increased risk of tumours, including Wilms tumour.
Mit változtat a diagnózis
Regular heart review for pericardial constriction, which may need surgery, plus monitoring for diabetes and tumours. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
MUL; mulibrey dwarfism; muscle-liver-brain-eye nanism; Perheentupa syndrome; pericardial constriction and growth failure; pericardial constriction-growth failure syndrome
