Bilateral microtia

Gene: LEMD3

Red List (low evidence)

Inheritance:Autosomal dominant;Isolated cases

Created: 9 Feb 2016, 5:16 p.m.

Mode of inheritance
Other

Phenotypes
#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)]

Publications

• PMID:10671519
• 12684533
• 12749062
• 15489854
• 15601644
• 17087626
• 17223882
• 19438932
• 19720741
• 9295073

Red List (low evidence)