Bloch-Sulzberger syndrome
MeSH: D007184ORPHA: 464
Overview
genetic disorder that affects the skin, hair, teeth, nails, and central nervous system
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 Bloch-Sulzberger syndrome, sourced from HPO and Orphanet clinical annotations.
Orofacial cleftHearing abnormalityStrabismusKeratitisVisual impairmentCataractAbnormal chorioretinal morphologyRetinal detachmentUveitisMicrophthalmiaRetinal hemorrhageBlue scleraeHypodontiaAbnormal dental enamel morphologyDelayed eruption of teethHyperkeratosisHyperhidrosisSkin rashAbnormality of skin pigmentationHypopigmented skin patchesAbnormal fingernail morphologyIntellectual disabilitySeizureHypotoniaSpasticityGlobal developmental delayGait disturbanceUmbilical herniaAbnormal hair morphologyAlopeciaAbnormal nail morphologyCongestive heart failureHypoplastic fingernailDystrophic toenailBroad nailIncreased total eosinophil countPulmonary arterial hypertensionCerebral cortical atrophyInfectious encephalitisSupernumerary nippleCerebral ischemiaScoliosisOsteolysisSpina bifida occultaAbsent handDeviation of fingerShort statureHemiplegia/hemiparesisSupernumerary ribsAbnormal hand morphologyFinger syndactylyAbnormal dental morphologyAttention deficit hyperactivity disorderIrregular hyperpigmentationRetinal neovascularizationCorneal opacityAbnormal blistering of the skinAbnormal toenail morphologyRidged fingernailErythemaAbnormality of immune system physiologyCamptodactyly of fingerCognitive impairmentAsymmetric growthTelangiectasia of the skinSkin ulcerVerrucae
Classification & Codes
MeSH Code
D007184Orphanet Code
ORPHA:464Bloch-Sulzberger syndrome
| MeSH | D007184 |
| Orphanet | ORPHA:464 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO