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

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

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
HOXB1	906	142968	NM_002144.4	AR
PLXND1	5778	604282	NM_015103.3	AD, AR
REV3L	9393	602776	NM_002912.5	n.k.
MYF5	768	159990	NM_005593.3	AR
TUBB3	1353	602661	NM_006086.4	AD

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