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IllnessCraniofacial microsomia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Craniofacial microsomia, differential diagnosis, comprising 8 or 21 curated genes according to the clinical signs

ID
CP3444
Number of genes
21 Accredited laboratory test
Examined sequence length
25,1 kb (Core-/Core-canditate-Genes)
48,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CHD78994AD
DHODH1188AR
EYA11779AD
POLR1C1041AR
POLR1D402AR
SALL13975AD
SALL43162AD
TCOF14467AD
CHN11302AD
EDNRA1284AD
EFTUD22919AD
GNAI31065AD
LMNA1995n.k.
MAFB972AR
MYT13366AD
PLCB43585AD, AR
SF3B41275AD
SIX1855AR
SIX52220AD
TFAP2A1296AD
ZMPSTE241428AR

Informations about the disease

Clinical Comment

Group of diseases: (Hemifacial) microsomia associated with ear and/or eye malformations of variable severity. Additional malformations involving vertebrae, heart, kidneys, central nervous, digestive + skeletal systems may be associated.

 

Synonyms
  • Alias: Oculo-auriculo-vertebral spectrum
  • Allelic: Anterior segment anomalies with/-out cataract (EYA1)
  • Allelic: Branchiootic syndrome 3 (SIX1)
  • Allelic: Deafness, autosomal dominant 23 (SIX1)
  • Allelic: Hypogonadotropic hypogonadism 5 with or without anosmia (CHD7)
  • Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Allelic: Migraine, resistance to (EDNRA)
  • Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
  • Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
  • Allelic: Townes-Brocks syndrome 1 (SALL1)
  • Acrofacial dysostosis (SF3B4)
  • Auriculocondylar syndrome 1 (GNAI3)
  • Auriculocondylar syndrome 2 (PLCB4)
  • Branchiooculofacial syndrome (TFAP2A)
  • Branchiootic syndrome (EYA1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • CHARGE syndrome (CHD7)
  • Duane retraction syndrome 2 (CHN1)
  • Duane retraction syndrome 3 (MAFB)
  • Duane-radial ray [Okihiro] syndrome (SALL4)
  • IVIC syndrome (SALL4)
  • Mandibuloacral dysplasia (LMNA)
  • Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Mandibulofacial dysostosis with alopecia (EDNRA)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Miller syndrome, included (DHODH)
  • Oculo-auriculo-vertebral spectrum/Goldenhar syndrome [panelapp] (MYT1)
  • Otofaciocervical syndrome (EYA1)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Treacher Collins syndrome 1 (TCOF)
  • Treacher Collins syndrome 2 (POLR1D)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.0

Bioinformatics and clinical interpretation

No text defined