Biology disorder paper
Jazmeen Floyd
IB Biology
March 9, y
The genetic disorder I choose was Smith-Magenis syndrome which is a developmental disorder that affects many parts of the body. This disorder occurs when the chromosome 17 gets deleted which contains the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1 .It happens spontaneously at conception, which means it is almost never inherited. Some of the major symptoms that are brought forward with this disorder Distinct facial features brachycephaly which means a short wide head, mid-face hypoplasia, prominent forehead, epicanthal folds, broad nasal bridge, prognathism which is a protruding jaw, and ear anomalies. also Brachydactyly which means they will have short fingers and toes along with short stature, some times they will have a hoarse, deep voice or a speech delay.
Sometimes people with this condition will have Learning disability such as mental retardation but with varying degrees, but will generally have IQ’s typically in the 50-60 range. Others with this condition will have Low muscle tone and or feeding problems in infancy, Eye problems, Sleep disturbances, Insensitivity to pain. Or some will haveBehavioral problems such as hyperactivity; that includes head banging; hand/nail biting; skin picking; pulling off fingernails and/or toenails; explosive outbursts; tantrums; destructive and aggressive behavior; excitability; arm hugging/hand squeezing when excited along with engaging and endearing personalities.
Some of the more minor symptoms that are pared with this condition include Heart defects, Scoliosis,Seizures,Urinary tract abnormalities,Abnormalities of the palate, cleft lip, along with hearing impairments. people who have this disorder are usually diagnosed and confirmed through a blood test that is called a high resolution chromosome analysis, which is typically performed for the evaluation of developmental delays. But if you happen to be an older child they can be diagnosed by an experienced
IB Biology
March 9, y
The genetic disorder I choose was Smith-Magenis syndrome which is a developmental disorder that affects many parts of the body. This disorder occurs when the chromosome 17 gets deleted which contains the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1 .It happens spontaneously at conception, which means it is almost never inherited. Some of the major symptoms that are brought forward with this disorder Distinct facial features brachycephaly which means a short wide head, mid-face hypoplasia, prominent forehead, epicanthal folds, broad nasal bridge, prognathism which is a protruding jaw, and ear anomalies. also Brachydactyly which means they will have short fingers and toes along with short stature, some times they will have a hoarse, deep voice or a speech delay.
Sometimes people with this condition will have Learning disability such as mental retardation but with varying degrees, but will generally have IQ’s typically in the 50-60 range. Others with this condition will have Low muscle tone and or feeding problems in infancy, Eye problems, Sleep disturbances, Insensitivity to pain. Or some will haveBehavioral problems such as hyperactivity; that includes head banging; hand/nail biting; skin picking; pulling off fingernails and/or toenails; explosive outbursts; tantrums; destructive and aggressive behavior; excitability; arm hugging/hand squeezing when excited along with engaging and endearing personalities.
Some of the more minor symptoms that are pared with this condition include Heart defects, Scoliosis,Seizures,Urinary tract abnormalities,Abnormalities of the palate, cleft lip, along with hearing impairments. people who have this disorder are usually diagnosed and confirmed through a blood test that is called a high resolution chromosome analysis, which is typically performed for the evaluation of developmental delays. But if you happen to be an older child they can be diagnosed by an experienced
References: Smith-Magenis syndrome - Genetics Home Reference. (n.d.). Retrieved from http://ghr.nlm.nih.gov/condition/smith-magenis-syndrome Special Child: Disorder Zone Archives - Smith-Magenis Syndrome. (n.d.). Retrieved from http://www.specialchild.com/archives/dz-027.html