What Is Smith Lemli Opitz Syndrome?
Smith - Lemli - Opitz Syndrome is a genetic consideration characterize by slown development of the foetus which continues even after birth with the child being very ho-hum to attain the milestone . to boot , children with Smith - Lemli - Opitz Syndrome incline to have clearly small-scale head , a condition call microcephaly , apart from psychomotor and genial retardation which may be variable and differ from person to individual .
Smith - Lemli - Opitz Syndrome also causes an individual to have distinct facial features and a cleft roof of the mouth . They also tend to have sure cardiac mar as well . Certain musculoskeletal abnormalities are also present in individuals with Smith - Lemli - Opitz Syndrome like fused 2nd and third toes , bearing of surplus fingers and toes , and most significantly underdeveloped external genitalia in males with Smith - Lemli - Opitz Syndrome .
The severeness of Smith - Lemli - Opitz Syndrome is quite varying and symptom may take issue even in bear on soul of the same kinsfolk . In some cases , the symptoms of Smith - Lemli - Opitz Syndrome may be so soft so as not to involve the development of the individual but in some cases it may be so severe that the affected individual may be nearly drug-addicted on others to complete tasks .
The main causal agency of Smith - Lemli - Opitz Syndrome is inadequacy of enzyme 7 - dehydrocholesterol reductase which facilitates cholesterol metabolism . This condition follow an autosomal recessionary trait meaning that two copies of the defective gene from each parent are want for a child to develop Smith - Lemli - Opitz Syndrome .
What Are The Causes Of Smith Lemli Opitz Syndrome?
As tell , the stem effort of Smith - Lemli - Opitz Syndrome is mutation of the DHCR7 cistron which results in insufficiency of 7 - dehydrocholesterol reductase enzyme .
The function of this enzyme is to facilitate metabolism of cholesterin . This condition espouse an autosomal recessive shape meaning that two copies of the defective cistron are required from each parent for development of Smith - Lemli - Opitz Syndrome .
In case if an person receive only one bad gene then he or she will be a bearer of the disease and will not show any symptom whatsoever of Smith - Lemli - Opitz Syndrome .
What Are The Symptoms Of Smith Lemli Opitz Syndrome?
The symptoms of Smith - Lemli - Opitz Syndrome are variable and take issue from patient role to affected role . Some patient may experience very mild symptoms which may not affect his or her growing whereas some patients may experience life-threatening symptom which may make them severely disabled . Some of the symptom of Smith - Lemli - Opitz Syndrome are :
How Is Smith Lemli Opitz Syndrome Diagnosed?
In Holy Order to name Smith - Lemli - Opitz Syndrome , the doctor will first take a elaborate account of the patient role to admit a family unit story to check whether there are any other members in the family who have similar symptoms .
When a transmissible condition like Smith - Lemli - Opitz Syndrome is suspect then an enzyme check will be done which will clearly show deficiency 7 - dehydrocholesterol reductase enzyme which will further nail the diagnosis . A genetic study may also be done which will show mutation of the DHCR7 cistron which will confirm the diagnosis of Smith - Lemli - Opitz Syndrome .
How Is Smith Lemli Opitz Syndrome Treated?
There is no specific discourse for Smith - Lemli - Opitz Syndrome and discourse is mainly aimed at improving symptom and correcting any defects that may be arising out of this disorder so as to better the caliber of life of the patient role .
For that , the affected role will be evaluate closely by a team of specialist span almost all the specialism who will supervise the patient role for cardiac , ocular , neurologic , neuromuscular , GI and genitourinary defects and contrive a treatment architectural plan accordingly .
Surgery may be recommended for correction of cleft palate or fusing of the toes and fingers to chastise them . Certain cardiac blemish may also be corrected with OR . The genital abnormality in Male with Smith - Lemli - Opitz Syndrome also requires surgical process for correction .
In some cases cholesterol subjunction may be recommended to better the growth of the patient role and improve the overall condition of the patient distress from Smith - Lemli - Opitz Syndrome .
