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It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome. [2] Diagnosis of NPS can be made at birth but is common for it to remain undiagnosed for several generations. While there is no cure available for NPS, treatment is available and recommended.
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).
Fong disease (or Nail–patella syndrome) [7] Fracture [8] G. Giant cell tumor of bone [9] Greenstick fracture [10] Gout [11] H. Hypophosphatasia [12]
Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus at 20q13.2-q13.3, which codes for the α subunit of the G s G protein-coupled receptor. [13] In bone, constitutive G s α signaling results in impaired differentiation and proliferation of bone marrow stromal cells . [ 14 ]
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old.It can be autosomal dominant neuromuscular disease or autosomal recessive.
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. [7] It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. [8]
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Sammy Basso, born December 1, 1995, was an Italian biologist, activist and writer who studied progeria and campaigned to raise awareness of the disease, died at the age of 28 on October 5, 2024. At the time of his death he was the longest-living survivor of the condition.