Bailey-Bloch congenital myopathy
Findings
No curated finding names Bailey-Bloch congenital myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
Definition from the Mondo Disease Ontology (MONDO:0009722), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 2 of 2 reported patients
- Downturned corners of mouthHPOHP:0002714
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Fatty replacement of skeletal muscleHPOHP:0012548
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Gowers signHPOHP:0003391
- 2 of 2 reported patients
Show the remaining 34
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient · Congenital onset
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STAC3HGNC:28423
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Bailey-Bloch congenital myopathy
- Also called
- congenital myopathy-cleft palate-malignant hyperthermia syndromemyopathy, congenital, baily-blochNative American myopathySTAC3 disorder