IllnessBohring-Opitz syndrome, differential diagnosis

NGS +

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.

• 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)