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GTR Home > Conditions/Phenotypes > Coffin-Lowry syndrome

Coffin-Lowry syndrome

Synonyms
COFFIN-LOWRY SYNDROME, MILD; Coffin syndrome; Mental retardation with osteocartilaginous abnormalities
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: RPS6KA3-Related Intellectual Disability
The phenotypic spectrum associated with RPS6KA3 pathogenic variants is a continuum. Coffin-Lowry syndrome (CLS) classically manifests in males with developmental delay, intellectual disability, neurologic manifestations (hypotonia, stimulus-induced drop attacks, spastic paraparesis, and seizures), musculoskeletal manifestations (kyphoscoliosis and pectus deformity), and characteristic craniofacial and hand findings. Dental issues, sensorineural hearing loss, and obstructive sleep apnea also occur. The milder end of the continuum in males includes neurodevelopmental disabilities with or without less pronounced multisystem involvement. Heterozygous females often exhibit clinical manifestations that can be consistent with clinically defined CLS but are typically less severe than those seen in affected males. Developmental delay and intellectual disability comprise the core phenotypic findings, and quality of life and prognosis are variably affected by the presence and severity of neurologic and musculoskeletal involvement.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
R Curtis Rogers
Fatima E Abidi
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Available tests

41 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLS, HU-3, ISPK-1, MAPKAPK1B, MRX19, RSK, RSK2, S6K-alpha3, XLID19, p90-RSK2, pp90RSK2, RPS6KA3
    Summary: ribosomal protein S6 kinase A3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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