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achondroplasia

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achondroplasia
achondroplasia Path. (æˌkɒndrəʊˈpleɪzɪə, eɪ-) [mod.L., f. Gr. ἄχονδρο-ς without cartilage + πλάσ-ις moulding, conformation + -ia1.] Abnormal formation of cartilage resulting in a form of dwarfism. Hence achondroˈplasiac, one affected with this condition; also achondroˈplasiac, achondroˈplasic, achon... Oxford English Dictionary
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Achondroplasia
In situations where both parents have achondroplasia there is a 50% chance the child will have achondroplasia, 25% chance the child will not, and a 25% Although used by those without achondroplasia to aid in growth, human growth hormone does not help people with achondroplasia, which involve a different wikipedia.org
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Achondroplasia in children
More than 250,000 people in the world are diagnosed with achondroplasia. Achondroplasia is defined by central nervous system defects as well as the prior physical symptoms. wikipedia.org
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chondrodystrophy
chondrodystrophy Path. (kɒndrəʊˈdɪstrəfɪ) [ad. G. chondrodystrophie (E. Kaufmann Untersuch. sogenannte foetale Rachitis 1892), f. mod.L. chondrodystrophia (also used), f. chondro- + dystrophy.] Any of a number of congenital disorders of the skeleton that involve cartilage, esp. chondrodystrophia fœt... Oxford English Dictionary
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Rhizomelia
Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of Typical examples of Rhizomelic short stature are achondroplasia and pseudoachondroplasia. wikipedia.org
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dwarfism
dwarfism (ˈdwɔːfɪz(ə)m) [f. dwarf n. + -ism.] The condition or character of being a dwarf or considerably undersized.1891 Brit. Med. Jrnl. 5 Dec. 1187/2 When found as a racial feature dwarfism appears to be propagated indefinitely. 1919 Nature 3 Nov. 304/1 One of these forms of dwarfism is known to ... Oxford English Dictionary
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Severe achondroplasia with developmental delay and acanthosis nigricans
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. Achondroplasia is a form of short-limbed dwarfism. wikipedia.org
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Osteochondrodysplasia
Types Achondroplasia Achondroplasia is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. The presence of epiphyseal changes serves as an important differentiating feature from achondroplasia. wikipedia.org
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Vosoritide
Vosoritide, sold under the brand name Voxzogo, is a medication used for the treatment of achondroplasia. The average height of an adult with achondroplasia is approximately four feet. wikipedia.org
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Dwarfism
Achondroplasia The most recognizable and most common form of dwarfism in humans is achondroplasia, which accounts for 70% of dwarfism cases, and occurs If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia is a mutation in the fibroblast growth factor receptor 3. wikipedia.org
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软骨发育不全症
参考资料 罕见遗传疾病一点通 外部连结 UK Support charity for individuals and families with Achondroplasia and other forms for restricted growth USA support group for little people USA based group supporting dwarfism through research Infographic on Achondroplasia, Bahtiar - Informasi Achondroplasia 遗传病 细胞表面受体缺陷 wikipedia.org
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Mesomelia
This is in contrast to rhizomelic dwarfism in which the upper portions of limbs are short such as in achondroplasia. wikipedia.org
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Biology Test 3 Study Guide Flashcards | Quizlet
Study with Quizlet and memorize flashcards containing terms like Cystic fibrosis, Achondroplasia 软骨炎, Galactosemia 半乳糖血症 and more.
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Fibroblast growth factor receptor 3
Achondroplasia Achondroplasia is a dominant genetic disorder caused by mutations in FGFR3 that make the resulting protein overactive. Only a single copy of the mutated FGFR3 gene results in achondroplasia. wikipedia.org
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Short-limb skeletal dysplasia with severe combined immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive type of achondroplasia which is characterized wikipedia.org
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