Sillence syndrome

MeSH: C537338ORPHA: 3168

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 Sillence syndrome, sourced from HPO and Orphanet clinical annotations.

Intervertebral disk degenerationLarge iliac wingShort fingerAbnormal distal phalanx morphology of fingerAbnormal proximal phalanx morphology of the handAbnormal morphology of the proximal phalanx of the halluxBroad thumbBrachydactylyPes cavusMetatarsus adductusScoliosisFlat acetabular roofShort middle phalanx of fingerAplasia of the middle phalanx of the handCamptodactylyEpicanthusOval facePlatyspondylySlender buildAbnormal nail morphologyBulbous tips of toesBroad metatarsalBack painAbnormal vertebral morphologyLarge tarsal bonesChess-pawn distal phalanges

Classification & Codes

MeSH Code

C537338

Orphanet Code

ORPHA:3168
Sillence syndrome
MeSHC537338
OrphanetORPHA:3168
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO