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Plantar fascial fibromatosis, also known as Ledderhose's disease, Morbus Ledderhose, and plantar fibromatosis, is a relatively uncommon [2] non-malignant thickening of the feet's deep connective tissue, or fascia.
Drusen, from the German word for node or geode (singular, "Druse"), are tiny yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with advancing age, and most people over 40 have some hard drusen. [1]
Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia , but can also occur with other anomalies as part of many congenital syndromes . Brachydactyly may also be a signal that one is at risk for congenital heart disease [ 1 ] due to the association between congenital heart disease and Carpenter syndrome and ...
Hand and foot defects seen in Saethre-Chotzen syndrome. Webbing between the second and third finger and between the second and third toes [2] Short fingers and toes (brachydactyly) [4] Broad thumb and/or a broad hallux (big toe) with a valgus deformity (outward angulation of the distal segment of a bone/joint) [6]
In children, optic disc drusen are usually buried and undetectable by fundoscopy except for a mild or moderate elevation of the optic disc. With age, the overlying axons become atrophied and the drusen become exposed and more visible. They may become apparent with an ophthalmoscope and some visual field loss at the end of adolescence. [7]
North Carolina macular dystrophy is an extremely rare autosomal dominant genetic disorder that primarily affects the eyes. It is a non-progressive disorder which is characterized by an abnormal development of the macula, multiple drusen, photoreceptor cells atrophy, and central vision loss. [2]
Brachymetatarsia is a rare malformation that causes one or more toes to be abnormally short. The condition is characterized by a metatarsal arch shortness of more than 5 mm.
Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including SHFM1 (SHFM1 at 7q21-q22), SHFM2 (Xq26), SHFM3 (FBXW4/DACTYLIN at 10q24 ...