Filippi syndrome
MeSH: C538152ORPHA: 3255
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 Filippi syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismMicrocephalyProminent nasal bridgeUnderdeveloped nasal alaeWide nasal bridgeWide noseIntellectual disabilityGlobal developmental delaySpecific learning disabilityMutismAphasiaSevere short statureClinodactyly of the 5th fingerEcholaliaShort philtrumBroad foreheadDownslanted palpebral fissuresOptic atrophyHypotoniaSpasticityLimitation of joint mobilityGrowth delayIntrauterine growth retardationSmall nailClinodactyly of the 5th toeFrontal bossingLimb dystoniaDelayed skeletal maturationShort statureBilateral single transverse palmar creasesParaplegiaEnlarged epiphysesAplastic/hypoplastic toenailBroad columellaProminent foreheadThin vermilion borderSeizureVentricular septal defectSupernumerary nippleFinger syndactyly
Classification & Codes
MeSH Code
C538152Orphanet Code
ORPHA:3255Filippi syndrome
| MeSH | C538152 |
| Orphanet | ORPHA:3255 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO