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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
- Vascular-Arteriosclerosis
- Biochemical
- Congenital-developmental
- Deficiency
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Major Organs-Systems ▼
- Systemic
- Pediatric
- Nervous & Sensory System (Neurology)
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- Respiratory (Pulmonary) System
- Gastro-Intestinal (Digestive) System
- Urinary System
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- Musculoskeletal System
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- Tissue/Cells/Organelles
Disease Information for Smith-Lemli-Opitz syndrome
- 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
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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.
(Edit)
- External Links Related to Smith-Lemli-Opitz syndrome
- 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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