RSH/Smith–Lemli–Opitz Syndrome: A Multiple Congenital Anomaly/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis

2000 ◽  
Vol 71 (1-2) ◽  
pp. 163-174 ◽  
Author(s):  
Forbes D. Porter
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Inborn Error ◽  
Cholesterol Biosynthesis ◽  
Multiple Congenital Anomaly ◽  
Opitz Syndrome

Smith-Lemli-Opitz Syndrome

2017 ◽  
Author(s):  
Ryan W. Lee
Keyword(s):  
Congenital Anomaly ◽  
Inborn Error ◽  
Cholesterol Synthesis ◽  
Plasma Cholesterol ◽  
Autism Spectrum ◽  
Behavioral Phenotype ◽  
Facial Features ◽  
Multiple Congenital Anomaly ◽  
Opitz Syndrome

Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.

Homozygous SALL1 mutation causes a novel multiple congenital anomaly mental retardation syndrome

2013 ◽  
Vol 44 (S 01) ◽  
Author(s):  
J Vodopiutz ◽  
H Zoller ◽  
AL Fenwick ◽  
R Arnhold ◽  
M Schmid ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Multiple Congenital Anomaly

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter is a Variant of the Former

2003 ◽  
Vol 6 (3) ◽  
pp. 270-277 ◽  
Author(s):  
Dinesh Rakheja ◽  
Golder N. Wilson ◽  
Beverly B. Rogers
Keyword(s):  
Congenital Anomaly ◽  
Liver Tissue ◽  
Hirschsprung Disease ◽  
Mendelian Inheritance ◽  
Severe Form ◽  
Appendicular Skeleton ◽  
Multiple Congenital Anomaly ◽  
Nasal Bridge ◽  
Opitz Syndrome ◽  
The Right

We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RM-CAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd–3rd toes and left 5th–6th toes, right talipes varus and left talipes valgus, and fused L5–S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 ± 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

2014 ◽  
Vol 51 (6) ◽  
pp. 729-734 ◽  
Author(s):  
Ferri P. David-Paloyo ◽  
Xuecai Yang ◽  
Ju-Li Lin ◽  
Fen-Hwa Wong ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Long Term Prognosis

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

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