Smith-Lemli Opitz Syndrome (SLOS)

One of the unique aspects of Smith-Lemli Opitz Syndrome (SLO) is that it is a true metabolic disorder and can be diagnosed with a blood test.  It is autosomal recessive, which means that both parents must carry the recessive gene in order to have an affected child.  There is a one in four chance with each pregnancy of having an affected child if both parents are carriers.  Prenatal testing at 10 weeks is available with CVS, also, amino can be done at around 16 weeks.  

The metabolic problems that occur are caused from lack of cholesterol.  The gene that is non-functioning in SLOS is the gene that produces the enzyme which converts 7-Dehydrocholesterol (7DHC) into its usable form of cholesterol. Children with SLOS will have extremely elevated levels of 7DHC and very low levels of cholesterol.  One of the therapeutic treatments for SLOS is the giving of oral cholesterol, either in purified liquid form, or through natural sources such as cream and egg yolks.

SLOS children are small and characterized by a small head, ears, tongue, chin and up-turned nose.  They have low-set ears and drooping eyelids.  They also have webbing between their toes.  SLOS children have small stomachs and slow intestinal motion that causes chronic constipation and vomiting and slow digestion.  Often this makes tube feeding necessary.  Severely low cholesterol levels also cause substantially slow growth rate.  Other features may include undescended testicles, cleft palate and congenital heart disease.  

Although SLOS children will learn to walk and talk, mental retardation is universal in varying degrees and independent living as adults in highly unlikely.

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