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)
18,2 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
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
H49.4
Bioinformatics and clinical interpretation
No text defined