Bohring-Opitz syndrome
ICD-10: Q87.8MeSH: C537419ORPHA: 589905
Overview
rare genetic syndrome caused by a mutation in the ASXL1 gene
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Bohring-Opitz syndrome, sourced from HPO and Orphanet clinical annotations.
MacrotiaIntellectual disabilityNeurodevelopmental delayThin vermilion borderHypertelorismLong philtrumHigh foreheadBroad nasal tipAnteverted naresAbnormality of refractionHypermetropiaSynophrysCafe-au-lait spotTapered fingerHypotoniaClinodactyly of the 5th fingerIncreased body weightAttention deficit hyperactivity disorderFeeding difficulties in infancyFatigueImpulsivityCryptorchidismEpicanthusRecurrent otitis mediaStrabismusPtosisUpslanted palpebral fissureSeizureGait disturbanceNeonatal hypotoniaConstipationGastroesophageal refluxSleep disturbanceHand tremorGeneralized joint hypermobilityRecurrent upper respiratory tract infections2-3 toe syndactylyAlmond-shaped palpebral fissureObesityBlindnessKidney failureHematuriaConduct disorderGlomerulonephritisBody dysmorphic disorderDisability affecting intellectual abilitiesShort statureHearing loss
Classification & Codes
ICD-10 Code
Q87.8MeSH Code
C537419Orphanet Code
ORPHA:589905Bohring-Opitz syndrome
| ICD-10 | Q87.8 |
| MeSH | C537419 |
| Orphanet | ORPHA:589905 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO