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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).
Osteopetrosis, literally ' stone bone ', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften.
A number of diseases can cause bone pain, including the following: Endocrine, such as hyperparathyroidism, osteoporosis, kidney failure. [7]Gastrointestinal or systemic, such as celiac disease and non-celiac gluten sensitivity (both often occur without obvious digestive symptoms), inflammatory bowel disease (including Crohn's disease and ulcerative colitis).
In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. [ 1 ] [ 2 ] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Maternal deficiencies may be the cause of overt bone disease from before birth and impairment of bone quality after birth. [20] [21] The primary cause of congenital rickets is vitamin D deficiency in the mother's blood. [21] Vitamin D ensures that serum phosphate and calcium levels are sufficient to facilitate the mineralization of bone. [22]
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]
It is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton.These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and ...