SpletMarfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features … Splet3-M syndrome Description 3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this …
JOINT LAXITY, SHORT STATURE, AND MYOPIA - Ontology …
Splet10. feb. 2024 · Figure 1. The University of Tokyo joint laxity test. Laxity of six major joints in the body (wrist, el-bow, shoulder, knee, ankle, hip) and of the spine was examined. … Splet30. jan. 2024 · • Joint laxity, scoliosis, pectus abnormalities • Myopia and ectopia lentis • High arched palate ... a relatively common chromosomal disorder, affecting approximately 1 in 2500 live female births. Patients affected have short stature, ... Myopia > 3 diopters • 1 point: Mitral valve prolapse (all types) ... deadpool touch of fur
Distal Joint Laxity, Mild Mental Retardation & Myopia: Causes
SpletJoint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia … SpletSpondyloepiphyseal Dysplasia. Spondyloepiphyseal dysplasia, Kimberley type is a mild form of spondyloepiphyseal dysplasia characterized by short stature and early development of … SpletSpondyloepiphyseal Dysplasia. Spondyloepiphyseal dysplasia, Kimberley type is a mild form of spondyloepiphyseal dysplasia characterized by short stature and early development of OA, especially in the knees, ankles, and hips, caused by a mutation in which a single DNA building block is inserted in the ACAN gene which could disrupt the gene's instructions … deadpool toys ebay