Pfeiffer syndrome type 2
ORPHA: 93259
Overview
Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities
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 Pfeiffer syndrome type 2, sourced from HPO and Orphanet clinical annotations.
Cleft palateHigh palateHydrocephalusMalar flatteningHypertelorismHigh foreheadLow-set earsAtresia of the external auditory canalChoanal atresiaProptosisVisual lossIntellectual disabilitySeizureGlobal developmental delayLimitation of joint mobilityLaryngomalaciaToe syndactylyShort footAnal atresiaRespiratory distressChiari malformationAqueductal stenosisIncreased intracranial pressureIntestinal malrotationCloverleaf skullTracheomalaciaShort noseDepressed nasal bridgeFinger syndactylyHallux varusDeviation of the thumbBroad hallux phalanxShort halluxBroad thumbSmall hand
Classification & Codes
Orphanet Code
ORPHA:93259Pfeiffer syndrome type 2
| Orphanet | ORPHA:93259 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO