Michels syndrome is a syndrome characterised by intellectual disability craniosynostosis blepharophimosis ptosis epicanthus inversus highly arched eyebrows and hypertelorism. And vary in other symptoms such as asymmetry of the skull […]
List of articles in "Disease" category - Page 71
Gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy also known as amyloid corneal dystrophy is a rare form of corneal dystrophy. The disease was described by Nakaizumi as early as 1914.
Subepithelial mucinous corneal dystrophy
Subepithelial mucinous corneal dystrophy (SMCD) is a rare form of corneal dystrophy. It was first described in 1993 by Feder et al. Anterior to Bowman layer deposits of glycosaminoglycan were […]
Lisch epithelial corneal dystrophy
Lisch epithelial corneal dystrophy (LECD) also known as band-shaped and whorled microcystic dystrophy of the corneal epithelium is a rare form of corneal dystrophy first described in 1992 by Lisch […]
Fleck corneal dystrophy
Fleck corneal dystrophy also known as Francois-Neetens speckled corneal dystrophy is a rare form of corneal dystrophy. It is caused by mutations in PIKFYVE gene. Small opacities some of which […]
Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea accumulate cholesterol and phosopholipid deposits […]
Functional disorder
A functional disorder is a medical condition that impairs the normal function of a bodily process but where every part of the body looks completely normal under examination dissection or […]
Posterior amorphous corneal dystrophy
Posterior amorphous corneal dystrophy (PACD) is a rare form of corneal dystrophy. It is not yet linked to any chromosomal locus. The first report describing this dystrophy dates back to […]
Congenital stromal corneal dystrophy
Congenital stromal corneal dystrophy (CSCD) also called Witschel dystrophy is an extremely rare autosomal dominant form of corneal dystrophy. Only 4 families have been reported to have the disease by […]
Amnion nodosum
Amnion nodosum are nodules on the fetal surface of the amnion and is frequently present in oligohydramnios. The nodules are composed of squamous cell aggregates derived from the vernix caseosa […]