Some specific signs of hereditary diseases

Some genetic diseases tend to display some specific syndrome, understanding these combined features conducive to the early detection and treatment. Some genetic disease specificity of symptoms and signs of stronger, to make a preliminary judgement based on symptoms and signs.

Variety of symptoms and signs of genetic disease, the following common performance as a reference for a preliminary diagnosis of genetic disease:

1, systemic conditions: growth retardation, weight less than age, intellectual and other developmental disabilities, mental and behavior, such as crying like a cat, and so on.

2, head: head, little giants, boat-shaped head, jaw, bone flat pillow, the full moon face. Eyes wide, inner canthus to repeat skin, small eyes, eyes-free crack crack, small eyes, eyes on the external oblique, danger and droop, without Iris, blue sclera, and strabismus, nystagmus, corneal opacities, cataracts, abnormal color vision, myopia. Ear low, small ears, large ears, deafness, ear malformations. Bridge collapse, nasal root clemency. Cleft lip, cleft palate, tongue, giant tongue extended, rack and other.

3, neck: wide neck, webbed neck, short neck, low, and so on.

4 and trunk: chicken breast, shield-shaped chest, spina bifida, breast wide spacing, mammary dysplasia, hernias, and so on.

5, limb: small limbs, short limbs, multiple fingers (toes), and means (toe), short, Spider (toe), means the thumb and big toe and second toe space, rocking chair-shaped foot, cubitus valgus, hips etc.

6, skin: skin texture changes, skin fish point of excessive, abnormal squamous skin, sweat-free, colour (pigment or reduced), fur, etc.

7, external genitalia and the anus: cryptorchidism, and external genitalia hypoplasia, hypospadias, small penis, hypertrophy of the clitoris, the labia sizes too large or too small, anal atresia, and so on.

Some hereditary illness characteristic of strong, you can make diagnosis based on some of the symptoms and signs. But some signs and symptoms of hereditary diseases are common to many hereditary diseases, to make an exact diagnosis to a variety of secondary checks for comprehensive analysis and judgment. So it finds a problem it is important to get medical help in a timely manner.

Why she gave birth to a cleft lip infants

After 12 hours of labor, Wang finally smooth real estate has a small baby in the hospital. She was so excited to fall asleep at night. But when you feed the next day, they see a gap in the middle of the upper lip of the baby. Air leakage due to the lips, children suck hard, just some breast milk, but throw up milk due to inhalation of large amounts of air. Look around the mother, infants in their arms are big mouth big mouth to suck, their children are different? Xiao Wang sorry could not help but cry.

Why health and cleft lip infants? Doctors say, cleft lip is a congenital defect, medically referred to as cleft lip. This deficiency affects facial appearance, also affects pronunciation, such as swallowing and sucking milk. The disease is a genetic disease, closely related to the internal and external environmental factors. According to the survey, cleft lip incidence of 0.17%, one of the parents is cleft lip, the incidence of children can be as high as 2.6% per cent, 15-32 times higher than the former.

According to the research proved that, if birth a child with cleft palates, the emergence of a second chance of cleft palates as 4%; If has borne two children cleft palates, chances of pregnancy have cleft palates child rose again to 9%; close relative higher incidence of child marriage. Description cleft palates and genetic factors are closely. In addition, environmental factors have a great impact, especially during early pregnancy, lack of nutrition, infections, and exposure to radiation and toxic substances, may result in fetal cleft lip anomalies.

Doctors told Wang, for operation for correction of cleft lip can be, this effect is better, provided by experienced doctors. After hearing this, Xiao Wang just stop the tears.

Why the sudden death of Dr David Heymann

For the United States women\'s volleyball state names of distinguished achievements under Dr Heymann, sudden acute disease in the game, doctor\'s advice will soon die. News of fans all over the world very sorry. Vim as athletes, how suddenly die out? People puzzled. United States doctors to Anatomy the body of Dr Heymann, autopsy results prove that Dr Heymann died \"Marfan syndrome\".

\"Marfan syndrome\" is also a genetic disease, the main victims of this disease organ is skeletal, cardiovascular and eye. Its causes and mechanism is not yet clear, but from the perspective of organization of the lesions, mainly elastic and collagen fiber damage.

In our country, there are dozens of cases on \"Marfan syndrome\" patients reported. Its main manifestation is: tall, thin, long extremities, especially metacarpal, metatarsal and phalangeal, toe bone thin, like a spider, so it is also called spider-like syndrome. Tsim, large ears, and the patient\'s head, high palatal arch JI, prominent mandibular, scapular is wing-shaped, flat foot, cavus, hammer toes. Its eye lens dislocation, patients with glaucoma or myopia, blue and white sclera, Iris, and so on. 60% per cent of patients with cardiovascular disease, such as aortic stenosis, aortic closure of patent ductus arteriosus, Middle caused by the degeneration of dissecting aneurysm of the aorta, is a cause of sudden death in patients with aortic aneurysm rupture. Patients with normal intellectual development, average life expectancy of only 32 years.

Marfan\'s syndrome there is a clear family, its genetic autosomal dominant genetic, but can be explicit does not appear in the same family. Gene mutations are the cause of disease, and parents about child-bearing age.

Marfan\'s syndrome there is currently no effective treatment methods.