Thekey difference疼痛质和下软骨质量之间那是阿贡质的genetic disorder以严重的短缺和身体不成比例为特征,而下软骨是一种遗传疾病,其特征是短暂的短缺和身体不成比例。
Dwarfism当一个人非常短时发生。在人类中,身高不到147厘米的人患有矮人。矮人可能是由于遗传mutationor growth hormone deficiency. We can categorize dwarfism into two categories: disproportionate dwarfism and proportionate dwarfism. Disproportionate dwarfism is characterized by either short limbs or a short torso, while in proportionate dwarfism, both the limbs and torso are unusually small. Achondroplasia and hypochondroplasia are two types of genetic disorders that show disproportionate dwarfism.
内容
1.Overview and Key Difference
2.What is Achondroplasia
3.What is Hypochondroplasia
4.Similarities Between Achondroplasia and Hypochondroplasia
5.阿贡质质量与次生体内的表格形式
6。概括
What is Achondroplasia?
腺质是一种遗传疾病,其特征是严重的短暂性和身体不成比例。这是一种遗传疾病,其主要特征是矮人。这是p.tyr278cys的结果。和P.Ser348Cys FGFR3基因的突变。这导致FGFR3基因的蛋白质过度活跃。它遵循常染色体显性遗传模式。大约80%的病例是由新突变引起的。此外,随着父亲的年龄的增长,新突变的风险也会增加。受影响的男性的高度为118-145 cm,女性的高度为112-136 cm。另一个重要的特征是头部扩大,额头突出,近端腿部缩短,手指和脚趾短,三叉戟手,小型中部,扁平的鼻桥,脊柱骨kyphosis,Lordosis,Bowleg,bowleg,敲门膝盖,膝盖,睡眠呼吸暂停和经常感染耳部感染。 This disorder generally does not affect intelligence. Achondroplasia occurs in 1 in 20000 to 30000 live births.
可以通过产前超声检测疼痛质。还可以进行DNA检测以检测遗传突变。对于这种情况没有治疗。最推荐的治疗方法是支持组和治疗复杂的疾病,例如肥胖,脑积水,阻塞性睡眠呼吸暂停,中耳感染,脊柱脑脊痛。即使人类生长激素用于治疗,它也不能帮助患有疼痛的人。药物宣传剂在第三阶段人为腺肿疾病的试验中显示出令人鼓舞的结果。此外,有争议的肢体延长手术可以增加患有这种遗传疾病的人的腿和手臂的长度。
What is Hypochondroplasia?
下软骨is a genetic disorder characterized by milder shortness and body disproportion. It results from p.Asn540Lys. mutation of FGFR3 gene. It also follows an autosomal dominant inheritance pattern. The height of the males with this disorder is 145 to 165 cm, while the height of the females with this disorder is 133 cm to 151 cm. The characteristic features are shorts arms and legs, limited range of motion at elbows, large head, lordosis, brachydactyly, micromelia, spinal stenosis, skeletal dysplasia, abnormality of the femur, etc. The incidence of hypochondroplasia occurs in 1 in 15000 to 40000 newborns.
The diagnosis of this disorder can be done through X-rays and additionally genetic testing for specific mutations. The treatment for hypochondroplasia usually includes orthopedic surgery, physical therapy, and genetic counselling for individuals and their families. People who have spinal stenosis can undergo laminectomy.
疼痛质症和下降体质之间有什么相似之处?
- 由于FGFR3基因中的突变不同,因此会导致疼痛浮肿和下软骨质。
- 它们是遗传的遗传疾病。
- These follow autosomal dominant inheritance patterns.
- Both types of genetic disorders show disproportionate dwarfism.
- These disorders have a characterized short stature.
疼痛质症和下软骨质量有什么区别?
Achondroplasia is a genetic disorder that accompanies severe shortness and body disproportion, while hypochondroplasia is a genetic disorder that accompanies milder shortness and body disproportion. This is the key difference between achondroplasia and hypochondroplasia. Achondroplasia generally does not affect intelligence, but hypochondroplasia may have mild mental retardation. This is another difference between achondroplasia and hypochondroplasia.
The below infographic lists the difference between achondroplasia and hypochondroplasia in tabular form.
摘要 - 肌浮肿与下软骨质症
Dwarfism is a disorder characterized by shorter than normal skeletal growth. This disorder can be due to genetic or hormonal deficiency. Over 100 different conditions can cause dwarfism. Achondroplasia and hypochondroplasia are two types of genetic disorders that have disproportionate dwarfism. Achondroplasia is a genetic disorder that accompanies severe shortness and body disproportion, while hypochondroplasia is a genetic disorder that accompanies milder shortness and body disproportion. This is the key difference between achondroplasia and hypochondroplasia.
Reference:
1.基维,罗斯。“adnondroploplasia:原因,症状和诊断。”健康line, Healthline Media.
2. “下软骨。”约翰·霍普金斯医学。
Image Courtesy:
1.“”Kyle Pacek” By Kyle Pacek –(CC BY-SA 3.0)通过Commons Wikimedia
2. “Hypochondropl 17J W” By Kinderradiologie Olgahospital Klinikum Stuttgart – Own work(CC BY-SA 4.0)通过Commons Wikimedia
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