Management

MBTPS2-related diseases often have manifestations in multiple organ systems. We recommend: 1) Evaluation by Dermatology,2) evaluation by Ophthalmology, 3) Audiology evaluation, 4) evaluation for orofacial clefting, 5) echocardiogram, 6) kidney ultrasound, 7) growth monitoring, 8) screening for constipation and evidence of intestinal obstruction, 9) MRI, EEG and Neurology/Developmental Pediatrics evaluation, and 10) skeletal survey. There are reports of chronic diarrhea, dyslipidemia, bone marrow fibrosis, cytopenias and hypoalbuminemia associated with MBTPS2-related diseases. Annual CBC, immunoglobulins, and lipid panel should be considered. For individuals with the pure Osteogenesis imperfecta phenotype, the management guidelines for Osteogenesis imperfecta should be followed.