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Tetra-amelia syndrome is characterized by the complete absence of all four limbs. The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. [1] In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible.
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
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 ...
Amelia is the birth defect of lacking one or more limbs. [1] [2] The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. The term is from Ancient Greek ἀ- 'lack of' and μέλος 'limb'.
Woman Living with Ultra-Rare Disease Talks 'Reclaiming' Her Identity After Spending Life Feeling Like 'a Diagnosis' (Exclusive) Angela Andaloro December 12, 2024 at 3:41 PM
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It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse.
Celine Dion revealed on Thursday that she has a rare medical condition that has forced her to postpone dates on her European tour next year. In an emotional Instagram video in which she repeatedly ...