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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CHRNA11374AD, AR
CHRND1554AD, AR
CHRNG1554AR
RAPSN1239AR
RYR115117AR

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