Bd syndrome
ORPHA: 1236
Overview
disease
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 Bd syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal palate morphologyBrachycephalyMicrocephalyMandibular prognathiaHypertelorismFacial asymmetryBroad foreheadPreauricular skin tagStrabismusTelecanthusMicrophthalmiaBlue scleraeIris colobomaHypodontiaAbnormal thorax morphologyTapered fingerSeizureHypertoniaTessier cleftFrontal bossingSupernumerary nippleScoliosisAbnormal dermatoglyphicsBilateral single transverse palmar creasesLarge earlobeDimple chinBroad thumbAbnormality of movementLip pitCamptodactyly of fingerCognitive impairmentHypoplasia of the ear cartilage
Classification & Codes
Orphanet Code
ORPHA:1236Bd syndrome
| Orphanet | ORPHA:1236 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO