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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessMöbius syndrome, differential diagnosis

Summary

Short information

A curated differential diagnostic panel containing 3 and altogether genes, respectively, for the comprehensive analysis of the suspected Moebius syndrome

ID
MP5748
Number of genes
5 Accredited laboratory test
Examined sequence length
16,1 kb (Core-/Core-canditate-Genes)
18,2 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-GReferenz-Seq.Heredity
HOXB1906NM_002144.4AR
PLXND15778NM_015103.3AD, AR
REV3L9393NM_002912.5n.k.
MYF5768NM_005593.3AR
TUBB31353NM_006086.4AD

Informations about the disease

Clinical Comment

Congenital cranial dysinnervation disorder with in-/complete facial paralysis associated with bilateral palsy of abducens nerve causing impairment of ocular abduction; syndrome also includes various other congenital anomalies.

 

Synonyms
  • DD: Facial paresis, hereditary congenital, 3 (OMIM 614744)
  • DD: Fibrosis of extraocular muscles, congenital, 3A (OMIM 600638)
  • DD: Ophthalmoplegia, external, with rib and vertebral anomalies (OMIM 618155)
  • Alias: Congenital facial diplegia
  • Alias: Moebius syndrome
  • Athabaskan brainstem dysgenesis syndrome (HOXA1)
  • Bosley-Salih-Alorainy syndrome (HOXA1)
  • Facial paresis, hereditary congenital, 3 (HOXB1)
  • Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Moebius syndrome [genereviews] (PLXND1, REV3L)
  • Ophthalmoplegia, external, with rib + vertebral anomalies (MYF5)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined