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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).
Carpenter syndrome is an autosomal recessive disease which means both parents must have the faulty genes in order to pass the disease onto their children. Even if both parents possess the faulty gene there is still only a twenty five percent chance that they will produce a child affected by the syndrome.
This is an accepted version of this page This is the latest accepted revision, reviewed on 8 February 2025. Fear or disgust of objects with repetitive patterns of small holes or protrusions. Not to be confused with Trypanophobia. The holes in lotus seed heads elicit feelings of discomfort or repulsion in some people. Trypophobia is an aversion to the sight of repetitive patterns or clusters of ...
Leontiasis ossea, also known as leontiasis, lion face or lion face syndrome, is a rare medical condition, characterized by an overgrowth of the facial and cranial bones. It is not a disease in itself, but a symptom of other diseases, including Paget's disease, fibrous dysplasia, hyperparathyroidism and renal osteodystrophy. [citation needed]
3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. [1] The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. [2]
Alfred Blaschko, a private practice dermatologist from Berlin, first described and drew the patterns of the lines of Blaschko in 1901. He obtained his data by studying over 140 patients with various nevoid and acquired skin diseases and transposed the visible patterns the diseases followed onto dolls and statues, then compiled the patterns onto a composite schematic of the human body.
[3] [4] Rates of disease are equal in males and females. [3] Cases of what is believed to have been rickets have been described since the 1st century, [10] and the condition was widespread in the Roman Empire. [11] The disease was common into the 20th century. [10] Early treatments included the use of cod liver oil. [10] [12] [13]
The cause of this disease is a mutation in the DLX3 (distal-less 3) gene, which controls hair follicle differentiation and induction of bone formation. All patients with TDO have two co-existing conditions called enamel hypoplasia and taurodontism in which the abnormal growth patterns of the teeth result in severe external and internal defects ...