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Smith-Lemli-Opitz syndrome
What are the symptoms?
Congenital abnormalities that are present in children with SLOS include microcephaly, cleft palate, abnormalities of the fingers and toes (polydactyly and syndactyly) and abnormalities in development of the heart, kidneys, liver, and lungs. Not all these organs are affected in each case. Underdevelopment of external genitalia occurs in males.
Some infants are very severely affected and, in the past, the most severe form of the condition was called SLOS type II. Miscarriage, stillbirth or death in the first weeks of life may occur in such severe cases. In surviving infants, slow growth and poor weight gain is the rule and feeding via a gastrostomy may be required.
As the infant gets older, severe learning difficulties usually become evident but it is not uncommon for mildly affected individuals to present with behavioural problems, often with autistic-type behaviours (see entry, Autism Spectrum disorders) and tendency to self-injury. Individuals with SLOS are very rarely able to live independently.
Background
| Psychological and behavioural characteristics 
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