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)
38,1 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
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