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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessCraniofacial microsomia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Craniofacial microsomia, differential diagnosis, containing 8 core candidate gens as well as 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-GReferenz-Seq.Heredity
CHD78994NM_017780.4AD
DHODH1188NM_001361.5AR
EYA11779NM_000503.6AD
POLR1C1041NM_203290.4AR
POLR1D402NM_015972.4AR, AD
SALL13975NM_002968.3AD
SALL43162NM_020436.5AD
TCOF14467NM_001135243.2AD
CHN11302NM_001025201.4AD
EDNRA1284NM_001957.4AD
EFTUD22919NM_004247.4AD
GNAI31065NM_006496.4AD
LMNA1995NM_170707.4n.k.
MAFB972NM_005461.5AD
MYT13366NM_004535.3AD
PLCB43585NM_000933.4AD, AR
SF3B41275NM_005850.5AD
SIX1855NM_005982.4AD
SIX52220NM_175875.5AD
TFAP2A1296NM_001032280.3AD
ZMPSTE241428NM_005857.5AR

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

Bioinformatics and clinical interpretation

No text defined