Disease Information for Smith-Lemli-Opitz syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Facies/Pug nose pattern
Nostrils tilt forward/facies
Webbed second/third toes
Infant Seizures
Mental Deficiency Child
Dysmorphic dwarfism/short stature
Infant Abnormal Cry/Quality
Dysmorphic appearance/face
Short stature
Ptosis (blepharoptosis)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Maternal MSAFP/Quad test (Inhibin A/HG/UE3/AFP)
Maternal triple test (APF/HG/Estriol) abnormal (labs)
Abnormal Lab Findings - Decreased
Maternal estriol (UE3) levels (labs)
Associated Diseases & Rule outs
Associated Disease & Complications
Ambiguous genitalia/infant
Congenital anomalies
Congenital heart disease
Congenital urinary tract malformations
Cryptorchidism
Genital anomalies/caused
Growth retardation/failure
Hypospadius anomaly
Limb deformities/anomalies
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Patent ductus arteriosis
Skull deformities
Syndactyly/Webbing
Ventricular septal defect
Webbed fingers or toes/congenital
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 11q12-q13
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditary developmental disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
7 Dehydrocholest reductase def, 7 Dehydrocholesterol reductase deficiency, LETHAL ACRODYSGENITAL SYNDROME, POLYDACTYLY SEX REVERSAL RENAL HYPOPLASIA AND UNILOBULAR LUNG, RSH SLO Syndrome, RSH SLO Syndromes, RSH Smith Lemli Opitz (RSH SLO) syndrome, RSH Smith Lemli Opitz syndrome, RSH SYNDROME, RSH Syndromes, RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME, SLO SYNDROME, SLOS, Smith Lemli Opitz, Smith Lemli Opitz (SLO) syndrome I (SLOS I), Smith Lemli Opitz syndrome, Smith Lemli Opitz syndrome (disorder), Smith Lemli Opitz syndrome I, Smith Opitz Inborn syndrome, Smith syndrome, Synonym/RSH syndrome, Synonym/Smith-Opitz-Inborn syndrome
Treatment
Drug Therapy - Indication
RX/Cholesterol Supplement
Other Treatments
TX/Constitutional/No definitive treatment
Definition

Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.

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External Links Related to Smith-Lemli-Opitz syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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