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GTR Home > Conditions/Phenotypes > Bailey-Bloch congenital myopathy

Bailey-Bloch congenital myopathy

Synonyms
CONGENITAL MYOPATHY 13; Congenital myopathy cleft palate and malignant hyperthermia; Native American myopathy; STAC3 disorder
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: STAC3 Disorder
STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected individuals have weakness with myopathic facies, scoliosis, kyphosis or kyphoscoliosis, and contractures. Other common findings are ptosis, abnormalities of the palate (including cleft palate), and short stature. Risk for malignant hyperthermia susceptibility and restrictive lung disease are increased. Intellect is typically normal. Originally described in individuals from the Lumbee Native American tribe (an admixture of Cheraw Indian, English, and African American ancestry) in the state of North Carolina and reported as Native American myopathy, STAC3 disorder has now been identified in numerous other populations worldwide.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bryn D Webb
Irini Manoli
Ethylin Wang Jabs
view full author information

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMYP13, MYPBB, NAM, STAC3
    Summary: SH3 and cysteine rich domain 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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