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GTR Home > Conditions/Phenotypes > Potocki-Shaffer syndrome

Potocki-Shaffer syndrome

Synonyms
CHROMOSOME 11p11.2 DELETION SYNDROME; Defect 11 syndrome; Deletion of chromosome 11p11.2; P11pDS; Proximal 11P deletion syndrome
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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