{"id":22307,"date":"2022-08-31T08:26:55","date_gmt":"2022-08-31T08:26:55","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22307"},"modified":"2022-08-31T08:26:55","modified_gmt":"2022-08-31T08:26:55","slug":"smith-lemli-optiz-syndrome-slo-dhcr7-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/smith-lemli-optiz-syndrome-slo-dhcr7-gene\/","title":{"rendered":"Smith-Lemli-Optiz syndrome (SLO) \u2013 DHCR7 gene"},"content":{"rendered":"

Also known as:<\/u> SLO syndrome<\/em>; RSH syndrome<\/em>; Rutledge lethal multiple congenital anomaly syndrome<\/em>; Polydactyly, Sex reversal, renal hypoplasia, and unilobar lung<\/em>; Lethal acrodysgenital syndrome<\/em><\/p>\n

OMIM#270400 https:\/\/omim.org\/entry\/270400<\/a><\/p>\n

1. The Disease:<\/h4>\n

Smith-Lemli-Opitz syndrome (SLOS) is a congenital<\/a>multiple-anomaly\/ cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase.<\/p>\n

2. The symptoms:<\/h4>\n

It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.<\/p>\n

3. Actions to take in case of early diagnosis:<\/h4>\n

Biochemical correlation is recommended with low levels of cholesterol in 90% of the patients and elevated 7-dehydrocholesterol level\u00a0in all cases.<\/p>\n

SLO is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Neurology Center Management is provided by multidisciplinary team.<\/p>\n

While no long-term dietary studies on cholesterol supplementation have been conducted in a randomized fashion, cholesterol supplementation may result in clinical improvement.<\/p>\n

Consultation with a nutritionist and consideration of hypoallergenic or elemental formulas in infants; neonatal cholestatic liver disease often resolves with cholesterol and\/or bile acid therapy.<\/p>\n

Proper clothing and sunscreen with UVA and UBV protection for photosensitivity.<\/p>\n

In the presence of adrenal insufficiency, including stress-related doses of steroids during illness and other physical stress.<\/p>\n

Agents\/circumstances to avoid<\/u><\/em>:\u00a0Treatment with haloperidol or other drugs in the same class. Psychotropic drugs (trazodone, aripiprazole) that elevate 7-DHC should be used with caution; extended sun exposure should be avoided.<\/p>\n

Genetic counselling is highly recommended for family planning and evaluation of at-risk family members such as siblings.<\/p>\n

4. For more information:<\/h4>\n

Biblio:<\/strong><\/p>\n