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achondroplasia

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Achondroplasia | Johns Hopkins Medicine
Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor . In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate. www.hopkinsmedicine.org
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Achondroplasia - Wikipedia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. en.wikipedia.org
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Achondroplasia - Genetics - MedlinePlus
Achondroplasia is the most common form of short-limbed dwarfism. The word achondroplasia means "without cartilage formation." medlineplus.gov
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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: Symptoms, Treatment, Causes & Diagnosis
Achondroplasia is a bone growth disorder that results in dwarfism due to a genetic mutation in the arms and legs. Achondroplasia is the most common form of ... my.clevelandclinic.org
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Achondroplasia - StatPearls - NCBI Bookshelf
Achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. www.ncbi.nlm.nih.gov
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Achondroplasia: MedlinePlus Medical Encyclopedia
Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. medlineplus.gov
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Achondroplasia: Practice Essentials, Anatomy, Pathophysiology
Achondroplasia, hypochondroplasia, and metaphyseal chondrodysplasias are considered short-limb dwarfing conditions. These patients' sitting height is within ... emedicine.medscape.com
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Achondroplasia - Symptoms, Causes, Treatment | NORD
Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 ... rarediseases.org
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Achondroplasia - Pediatrics - Orthobullets
Achondroplasia is a common congenital skeletal dysplasia caused by a sporadic or autosomal dominant gain-of-function mutation in FGFR3 gene. www.orthobullets.com
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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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