Bilateral microtiaGene: LEMD3
Inheritance:Autosomal dominant;Isolated cases
Created: 9 Feb 2016, 5:16 p.m.
Mode of inheritance
#155950:Melorheostosis with osteopoikilosis [Contractures over affected bones; Flexion deformities over affected bones; Melorheostosis; Flowing hyperostosis of bone cortex; Osteosclerosis (lesions mainly affect diaphyses of long bones, hands, feet, and pelvis although epiphyses may also be affected); Skin atrophy over affected bones; Sclerotic soft tissue over affected bones]; #166700:Osteopoikilosis [Osteopoikilosis (' spotted bones' ) typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula; Stiff joints; Osteosclerosis; Melorheostosis, typically affect diaphyses (less common); Subcutaneous nontender firm nodules; Subcutaneous connective tissue nevi; Elastin-rich connective tissue nevi (elastoma); Collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata)]
This gene has been classified as Red List (Low Evidence).
LEMD3 was added to Bilateral Microtiapanel. Sources: Expert list