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Potocki-Lupski syndrome

Synonyms
CHROMOSOME 17p11.2 DUPLICATION SYNDROME; Chromosome 17, trisomy 17p11 2; Duplication 17p11 2; Duplication 17p11.2 syndrome; Potocki-Lupski syndrome (dup(17)(p11.2p11.2)); Trisomy 17p11 2
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Potocki-Lupski Syndrome
Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Lorraine Potocki
Juanita Neira-Fresneda
Bo Yuan
view full author information

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: BHD, DENND8B, FLCL, FLCN
    Summary: folliculin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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