Deutsch
IllnessMultiple pterygium syndrome, lethal; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Multiple pterygium syndrome, lethal, comprising 3 and altogether 6 curated genes according to the clinical signs
ID
MP0390
Number of genes
5
Accredited laboratory test
Examined sequence length
4,5 kb (Core-/Core-canditate-Genes)
20,9 kb (Extended panel: incl. additional genes)
20,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis + pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present
Synonyms
- Alias: AR lethal multiple pterygium syndrome, LMPS
- Alias: Multiple pterygium syndrome, lethal type
- Allelic: Central core disease (RYR1)
- Allelic: Fetal akinesia deformation sequence (RAPSN)
- Allelic: King-Denborough syndrome (RYR1)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
- Allelic: Myasthenic syndrome, congenital, 11, assoc. w. acetylcholine receptor deficiency (RAPSN)
- Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
- Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
- Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
- Allelic: Myasthenic syndrome, congenital, 3C, assoc. w. acetylcholine receptor deficiency (CHRND)
- Escobar syndrome [Multiple pterygium syndrome, non-lethal variant] (CHRNG)
- Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
- Nemaline myopathy 2, AR (NEB)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatics and clinical interpretation
No text defined