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.
