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Tiffany Yorks of Clearwater, Florida (May 7, 1988 – February 24, 2016) [13] underwent successful surgery in order to separate her legs before she was a year old. She was the longest-surviving sirenomelia patient to date. She had mobility issues due to her fragile leg bones and compensated by using crutches or a wheelchair.
Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a British woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs. In 2006, some doctors diagnosed Sellars as having Proteus syndrome , a very rare condition thought to affect only 120 people worldwide, [ 1 ] but more recent diagnoses ...
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Michelin tire baby syndrome (also known as Kunze–Riehm syndrome [1] and "folded skin with scarring" [2]: 625 ), is a condition occurring in babies that is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life.
Idiopathic orbital inflammatory (IOI) disease refers to a marginated mass-like enhancing soft tissue involving any area of the orbit.It is the most common painful orbital mass in the adult population, and is associated with proptosis, cranial nerve palsy (Tolosa–Hunt syndrome), uveitis, and retinal detachment.
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
Caudal duplication syndrome is a rare condition with only less than 100 patients in literature worldwide as of 2014 with only 2 patients diagnosed in adulthood. [6] The prevalence of the syndrome is less than one per 100,000 births. [5] The sex ratio of male to female patients is about 1:2, with no familial or racial predisposition being found ...
Periorbital hyperpigmentation, also known as hereditary dark circles, is characterized by darker skin around the eyes caused by the presence of additional melanin.It is an extremely common hereditary human characteristic and is frequently found on individuals with dark skin.