Coffin-Siris syndrome
MeSH: C536436ORPHA: 1465
Overview
genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability
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 Coffin-Siris syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityProminent eyelashesFeeding difficultiesCryptorchidismAbnormality of the genitourinary systemThin upper lip vermilionBroad philtrumLow anterior hairlineHearing impairmentBroad nasal tipAnteverted naresStrabismusVisual impairmentPtosisDelayed eruption of teethAtypical behaviorHirsutismSeizureGrowth delayAbnormal heart morphologyAbnormal facial shapeSparse scalp hairModerate intellectual disabilityScoliosisRecurrent infectionsDelayed skeletal maturationRecurrent upper respiratory tract infectionsShort noseDepressed nasal bridgeHypoplastic fifth fingernailPostnatal growth retardationFloppy infantShort 5th fingerThick nasal alaeSevere intellectual disabilityHypoplastic fifth toenailAspiration pneumoniaWide nasal baseClinodactylyHypospadiasHorseshoe kidneyMyopiaAggressive behaviorAutistic behaviorHyperactivityAgenesis of corpus callosumDandy-Walker malformationAbsent speechVentricular septal defectAtrial septal defectTetralogy of FallotPatent ductus arteriosusSimplified gyral patternOral aversionHerniaMicrocephalyIntrauterine growth retardationHepatoblastomaPapillary thyroid carcinomaWide mouthThick lower lip vermilionCoarse facial featuresThick eyebrowHypertrichosisSmall nail
Classification & Codes
MeSH Code
C536436Orphanet Code
ORPHA:1465Coffin-Siris syndrome
| MeSH | C536436 |
| Orphanet | ORPHA:1465 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO