Smith Lemli Opitz syndrome

Smith Lemli Opitz syndrome's disease overview

Smith Lemli Opitz syndrome (Smith - Lemli - Pitz Syndrome - SLOS) is a characteristic development disorder with characteristics such as special faces, small head size, minimal size Intellectuality or problems in the ability to study or have behavioral problems. Children who suffer from this syndrome are often autistic, affecting their social communication and social interaction ability. It is also often accompanied by malformations in the heart, lungs, kidneys, gastrointestinal tract and genital organs. In addition, most cases of this syndrome have a finger defect such as the second and third toe, and some have a polydactyl finger or toe (polydactyl). 

This syndrome was first described in 1964, pediatricians, David Smith, Lucli and Opitz John described three male patients with congenital multiple deformities and mental retardation. God and determine this situation as RSH with their first letters of these patients. After that, the name of the syndrome was changed to the surname of the discovery (Slo).

Smith Lemli Opitz syndrome appears about 1/60,000 to 1/20,000 cases living worldwide. This syndrome is easy to see in Europeans, especially in countries in Central Europe such as the Czech Republic or Slovakia. However, it is very rare in African and Asians.

Causes of Smith Lemli Opitz syndrome's disease

The cause of the disease was not known until 1993, Irons, Elias and Tint discovered patients with Smith Lemli Opitz syndrome with low blood cholesterol levels and the accumulation of sterol precursors like 7 DHC is due to a shortage of cholesterol biosynthesis, which is caused by a genetic mutation. Today, Slo syndrome is considered a congenital metabolic defect. 

Smith Lemi Opitz syndrome is a result of a genetic disorder (mutation) of the DHCR7 gene located on chromosomes No. 11, responsible for encrypting the 7-dehydrocholesterol reductase biosynthesis (is is The catalyst enzyme for cholesterol synthesis) leads to the consequence of disturbing cholesterol biosynthesis (decreasing). As we all know, cholesterol is an important structure of the cell membrane as well as the component to synthesize so many of the important hormones of the body, the main component that makes up the myelin shell of the nerve fiber. DHCR7 gene mutation slos, thereby reducing the synthesis of cholesterol of the body, depending on the degree of deficiency, there are different clinical manifestations, from mild with intellectual disabilities, malformations. The officials until severe cases may have miscarriage, fetal death or death immediately after birth not long. 

DHCR7 gene mutations are a diving gene mutation on normal chromosomes, which means that the patient has inherited the mutant gene that causes disease from both parents to be able to have clinical manifestations. If you only receive one gene from a parent, there will be no actual disease, but you will become a gene carrier and may pass the gene that causes your child in the future. In case both parents carry the pathogenic gene, 25% of the parents of these parents will inherit both the disease genes and manifest into the disease, 50% of the children will inherit the mutant gene from the parents and the mother and the mother and the mother and the mother and the mother and the mother and the mother and the mother and the mother and the mother and the mother and Become a gene carrier in the future; Only 25% of the births can be completely normal because it does not inherit any mutant gene from both parents.

Symptoms of Smith Lemli Opitz syndrome's disease

The symptoms of Smith Lemi Opitz syndrome may vary depending on the affected person, especially depending on the amount of cholesterol that the body can produce. The manifestations are very changing, if the condition is mild, there may be only some problems in learning and behavior; But in the most serious cases, patients may have intellectual disabilities and severe physical abnormalities that can lead to death. Symptoms that can appear right from birth, may also be gradually manifested in the development of the patient:

  • Intellectual retardation (100%)

    • Autism

  • Physical retardation, exercise

    • behavioral disorders: social opposition, self -destruction and violence. 

  • Small head - microCephaly (90%).

    • Bone muscle defects including fingers or toes or fingers or toes

  • cleft palate, small jaw
  • Outdoor genitals of underdeveloped men
  • Eyelid drooping, wrinkles in the upper and lower eyelids, strabismus

    • Premature cataracts

  • Large ears, bad sounds

    • Neurological problems such as seizures

  • Reduce tone
  • Bowel obstruction

    • Light sensitivity

  • heart defects; polycystic kidney; Renal disabilities (1 side or both sides); Increase adrenal glands, liver disease ...

    • Pyloric stenosis, Hirschprung disease (congenital aneurysm)

    Diagnostic measures for Smith Lemli Opitz syndrome's disease

    To diagnose Smith Lemli Opitz syndrome, the doctor will first collect the patient's detailed history including family history to determine if any other member of the family has millions. Similar evidence.

    Children born with signs such as drowsiness, respiratory failure, deafness, blindness, vomiting, difficulty sucking, slow growth, constipation, cyanosis, congested heart failure, sensitive to light , mental abnormalities ... then suggest diagnosis of Smith Lemli Opitz syndrome. When searching, the doctor can detect signs: small head, wide nostrils, small jaws, eyelids, eye strabismus, cataracts, low earlobes, toe 2 and 3, The face looks like Down syndrome (3 chromosomes No. 21), dome to split in half, hear the heart with abnormalities ...

    When the child is still in the womb, the mother may detect the disease through ultrasound, if suspected, the amniotic fluid will be conducted. The enzyme will be quantified to detect a deficiency of 7-dehydrocholesterol reductase and identify gene mutations. However, these tests have only been done in a few laboratories in advanced countries. After the child is born, if there is a suspected disease, he will be tested for biochemical, quantifying blood cholesterol (LDL cholesterol), blood sterol, gene mutant analysis, analysis of enzymes, cytological tests, etc. . Of course, imaging tests must be performed for disabled organs.

    Smith Lemli Opitz syndrome's disease treatments

    There is no specific treatment for Smith Lemi Opitz syndrome and treatment of Smith Lemi Opitz mainly to improve symptoms and repair defects arising from this disorder.

    Patients will be closely assessed by a group of experts coordinating almost all majors. Patients will be monitored with heart, eye, nervous, neuromuscular, digestive, genitals and a suitable treatment plan.

    Surgical surgery may be indicated for repairing lips or sticking toes and fingers. Some heart defects may also be treated with surgery. Genital abnormalities in men with Smith-Lemli-opit syndrome also need surgery.

    In some cases, cholesterol supplementation may be encouraged by a doctor to improve the growth and general condition of the patient.

    Also can add deficiency hormones, hearing aids, eating cholesterol -rich diets.

    For cases of sunlight sensitivity, patients need to use sunscreen, sunglasses and clothes suitable for outdoors.

    Because this is a genetic disease, there is no effective prevention except for good prenatal screening. Couples also need to thoroughly understand the information about the disease before intending to give birth. And finally, couples who have a child with Smith Lemli Opitz syndrome should not continue because 25% of the next child will have this syndrome.

    See also:

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