achondroplasia…

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achondroplasia, disorder of bone growth that causes, most common type of dwarfism, achondroplasia, inherited disorder of bone growth, the group of disorders, collectively, chondrodystrophies, osteochondrodysplasias, disorder causes, a type of dwarfism that is recognized by a characteristic normal- to large-sized head, shortened arms, legs, the upper arm, thigh, a normal-sized trunk, waddling gait, achondroplasia, most common type of dwarfism, achondroplasia inherited, an autosomal dominant trait, that, a child gets the defective gene, one parent, child, have the disorder, 80% of cases appear, spontaneous mutations, that two parents, achondroplasia, give birth to a baby, achondroplasia, one parent has achondroplasia, infant has a 50% chance of inheriting the disorder, parents have the condition, infant's chances of affected increase to 75%, typical appearance of achondroplastic dwarfism is apparent at birth, short stature, short limbs, upper arm, thigh, skeletal, limb, abnormalities, abnormal hand appearance, trident hand, persistent space between the long, ring fingers, marked kyphosis, lordosis, spine curvatures, waddling gait, prominent, conspicuous, forehead, frontal bossing, disproportionately large head-to-body size difference, hypotonia, polyhydramnios, bowed legs, spinal stenosis, a family history of achondroplasia should alert parents, possibility of having an affected child, examination, the infant shows increased front-to-back head size, occipital-frontal circumference, signs of hydrocephalus associated, enlargement, the chambers, the center, the brain, ventricular dilatation, x-rays, the long bones, demonstrate achondroplasia, in the newborn, , no specific treatment, achondroplasia, related abnormalities, spinal stenosis, spinal cord compression, they cause problems, people, achondroplasia seldom reach 5 feet in height, intelligence, in the normal range, infants who, homozygous, achondroplasia, parents, achondroplastic, each has contributed an affected gene, seldom live beyond a few months, , hydrocephalus, clubbed feet, , family history of achondroplasia, plan to have children, find it helpful to speak to health care provider, , genetic counseling helpful, prospective parents, have achondroplasia, achondroplasia, arises, a spontaneous mutation, prevention is not always possible.