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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessBohring-Opitz syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Bohring-Opitz syndrome comprising 10 curated genes according to the clinical signs

ID
AP0450
Number of genes
10 Accredited laboratory test
Examined sequence length
4,7 kb (Core-/Core-canditate-Genes)
38,1 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-GHeredity
ASXL14626AD
ASXL24366AD
ASXL36747AD
CD961710AD
HDAC81134XLD
KLHL71761AR
NIPBL8415AD
RAD211896Ass
SMC1A3702XLD
SMC33654AD

Informations about the disease

Clinical Comment

Intrauterine growth retardation, failure to thrive, facial dysmorphism (prominent metopic suture, forehead nevus flammeus, low frontal + temporal hairline, hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip + palate, retrognathia, low set ears), flexion deformities of elbows + wrists, camptodactyly, ulnar deviation of fingers, foot anomalies + severe developmental delay. Mostly sporadically.

 

Synonyms
  • Sympt.: Flexion of elbows + wrists, deviation of wrists + metacarpophalangeal joints
  • Sympt.: Intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly
  • Sympt.: Prominent metopic suture, exophth., naevus flamm., upslanting palpebral fissures, hirsutism
  • Alias: C-like syndrome (ASXL1)
  • Alias: Opitz trigonocephaly-like syndrome (ASXL1)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Myelodysplastic syndrome, somatic (ASXL1)
  • Allelic: Retinitis pigmentosa 42 (KLHL7)
  • Bainbridge-Ropers syndrome (ASXL3)
  • Bohring-Opitz syndrome (ASXL1)
  • C syndrome (CD96)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • PERCHING syndrome [Crisponi/cold-induced sweating syndrome] (KLHL7)
  • Shashi-Pena syndrome (ASXL2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.1

Bioinformatics and clinical interpretation

No text defined