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Pallister Hall syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Pallister-Hall syndrome is caused by an alteration or fault in the GLI3 gene that is on chromosome 7. Usually this fault has arisen at conception in the child but occasionally it is inherited from one parent (who may have mild features of the condition). It is important that families are referred to a clinical geneticist who can accurately assess and counsel the family on the diagnosis, inheritance pattern, recurrence risk and the possibility of prenatal diagnosis in future pregnancies.
Prenatal diagnosis
This may be possible and the advise of a clinical geneticist should be sought.
What are the symptoms?
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