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IllnessMeier-Gorlin syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Meier-Gorlin syndrome comprising 8 curated genes according to the clinical signs

ID
MP7658
Number of genes
8 Accredited laboratory test
Examined sequence length
10,2 kb (Core-/Core-canditate-Genes)
12,7 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
CDC61683AR
CDT11641AR
MCM52205AR
ORC12586AR
ORC41311AR
ORC6759AR
CDC451819AR
GMNN670AD

Informations about the disease

Clinical Comment

Severe intrauterine + postnatal growth retardation, poor weight gain, microcephaly, bilateral microtia, aplasia/hypoplasia of patellae, characteristic facial features such as high forehead, micrognathism with full lips + small mouth, accentuated nasolabial folds

 

Synonyms
  • Alias: Ear-patella-short stature syndrome
  • Alias: Microtia, absent patellae, micrognathia
  • Alias: Microtia, absent patellae, micrognathia syndrome
  • Meier-Gorlin syndrome 1 (ORC1)
  • Meier-Gorlin syndrome 2 (ORC4)
  • Meier-Gorlin syndrome 3 (ORC6)
  • Meier-Gorlin syndrome 4 (CDT1)
  • Meier-Gorlin syndrome 5 (CDC6)
  • Meier-Gorlin syndrome 6 (GMNN)
  • Meier-Gorlin syndrome 7 (CDC45)
  • Meier-Gorlin syndrome 8 (MCM5)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q89.8

Bioinformatics and clinical interpretation

No text defined