congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
MONDO:0014896Mondo
Findings
No curated finding names congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
38 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.
- Axial muscle weaknessHPOHP:0003327
- 4 of 4 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Follicular hyperkeratosisHPOHP:0007502
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Muscular dystrophyHPOHP:0003560
- 4 of 4 reported patients
- Neck muscle weaknessHPOHP:0000467
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 26
- Reduced forced vital capacityHPOHP:0032341
- 2 of 2 reported patients
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Pes valgusHPOHP:0008081
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.
- TRIP4HGNC:12310
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Also called
- congenital muscular dystrophy, Davignon-Chauveau typeMDCDCmuscular dystrophy, congenital, Davignon-Chauveau type