GTR Home > Conditions/Phenotypes > 9q22.3 microdeletion


Excerpted from the GeneReview: 9q22.3 Microdeletion
9q22.3 microdeletion, which includes deletion of PTCH1, the gene that is mutated in Gorlin syndrome (nevoid basal cell carcinoma syndrome), is characterized by the clinical findings of this well-described disorder as well as developmental delay and/or intellectual disability, metopic craniosynostosis, obstructive hydrocephalus, pre- and postnatal macrosomia, and seizures. Affected individuals are also at increased risk for Wilms tumor. Common findings in Gorlin syndrome include: calcification of the falx cerebri prior to age 20 years; basal cell carcinomas (BCCs) of the skin; jaw keratocysts; palmar/plantar skin pits; and increased risk for childhood medulloblastomas as well as cardiac and ovarian fibromas. The clinical spectrum of the 9q22.3 microdeletion is variable and the clinical findings depend somewhat on the size of the microdeletion.

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