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Facial deformities with Smith-Fineman-Myers syndrome. SFMS affects the skeletal and nervous system. This syndrome's external signs would be an unusual facial appearance with their heads being slightly smaller than average, a narrow face (clinically known as dolichocephaly), a large mouth with a drooping lower lip that is held open, protruding upper jaw, widely spaced upper front teeth, an ...
There are many instances of mythological characters showing signs of a deformity.. Descriptions of mermaids may be related to the symptoms of sirenomelia.; The Irish mythology includes the Fomorians, who are almost without exception described as being deformed, possessing only one of what most have two (eyes, arms, legs, etc.) or having larger than normal limbs.
[1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals. Because most people are not diagnostically trained or knowledgeable, they typically describe their symptoms in layman's terms, rather than using specific medical terminology. This list is not exhaustive.
Wiedemann–Steiner syndrome (WSS) [2] is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone . The syndrome was originally described in 1989 [3] by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. [4]
A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. Specialty: Medical genetics, pediatrics: Symptoms: Mildly unusual facial features, short height, congenital heart disease, bleeding problems, skeletal malformations [1] Complications: Leukemia [1] Usual onset: Present at birth ...
Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body. [1] The letters G and BBB represent the last names of the families that were first diagnosed with the disorder, while Opitz is the last name of the doctor that first ...
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone disease, [1] is a very rare skeletal condition of unknown cause.It is characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis.