Smith-Lemli-Opitz syndrome


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Smith-Lemli-Opitz syndrome

 [smith´lem´le o´pitz]
a hereditary syndrome, transmitted as an autosomal recessive trait, characterized by microcephaly, mental retardation, hypotonia, incomplete development of male genitalia, short nose with anteverted nostrils, and syndactyly of the second and third toes.

Smith-Lem·li-O·pitz syn·drome

(smith lem'lē ō'pits), [MIM*270400]
mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.

Smith-Lem·li-O·pitz syn·drome

(smith lem'lē ō'pits), [MIM*270400]
mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.

Smith-Lemli-Opitz syndrome

Neonatology A rare AR condition characterized by multiorgan birth defects, with microcephaly, hypotonia, dysmorphic facies–short nose with anteverted nares, ptosis of eyelids, micrognathia, poly- and/or syndactyly, ♂ genital disorders–cryptorchidism, hypospadias, endocrine defects, cataracts, cardiac and renal malformations, major mental retardation, FTT, high infant mortality Lab ↓ Cholesterol in < 5th percentile, ↑–2000 x normal cholesterol precursor 7-dehydrocholesterol–detected by GC which may be incorporated into cell membranes, interfering with proper functioning

Lemli,

Luc, 20th century U.S. pediatrician.
Smith-Lemli-Opitz syndrome - see under Smith, David W

Opitz,

John Marius, U.S. pediatrician, 1935–.
Opitz-Frias syndrome - males affected from birth; swallowing problems with recurrent aspiration, stridorous breathing, and hoarse cry.
Opitz-Kaveggia syndrome - in males; X-linked recessive syndrome of multiple congenital anomalies and mental retardation.
Smith-Lemli-Opitz syndrome - see under Smith, David W

Smith,

David W., U.S. pediatrician, 1926-1981.
Marshall-Smith syndrome - Synonym(s): Marshall syndrome
Mulvihill-Smith syndrome - see under Mulvihill-J
Smith-Lemli-Opitz syndrome - mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes.
References in periodicals archive ?
Smith-Lemli-Opitz syndrome. Paediatric Quarterly 2010;2:17-20.
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/ mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured fibroblasts.
Clinical, laboratory and genetic findings in four families with Smith-Lemli-Opitz syndrome Family 1 Family 2 Family 3 Family 4 Index birth 2008 2011 1989 2011 Status Alive Alive Alive Deceased Gender Male Female Female Male Ethnicity * Afrikaans English English Afrikaans Syndactyly ([dagger]) Yes Yes Yes Yes Microcephaly Yes Yes Yes Yes Hypotonia Yes Yes Yes Yes Cleft palate No No Yes No Developmental delay Yes Yes Yes n/a Injurious behaviour Yes Yes Yes n/a Feeding difficulty Yes Yes Yes n/a Abs 282/234 (nm) 3.08 3.12 1.95 n/a Mutation maternal G410S T289I T93M W151X Mutation paternal G410S W151X IVS8-1G>C V281M Abs = absorption.
Beyond cholesterol: antioxidant treatment for patients with Smith-Lemli-Opitz syndrome. Abstract, Annual Meeting, American Society for Human Genetics.
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid.
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents.
Diagnosis of Smith-Lemli-Opitz syndrome. N Engl J Med 1994;330:1685-6.
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3[beta]-ol) in patients with Smith-Lemli-Opitz syndrome. J Lipid Res 1995;36:705-13.