Pfeiffer syndrome type 3
ORPHA: 93260
Overview
Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow 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 3, sourced from HPO and Orphanet clinical annotations.
Vesicoureteral refluxHorseshoe kidneyHydronephrosisCleft palateHigh palateBrachyturricephalyHypertelorismHigh foreheadHearing impairmentLow-set earsStenosis of the external auditory canalChoanal atresiaProptosisAmblyopiaIntellectual disabilitySeizureLimitation of joint mobilityLaryngomalaciaToe syndactylyShort footAnal atresiaRespiratory distressChiari malformationAqueductal stenosisIncreased intracranial pressureIntestinal malrotationTracheomalaciaShort noseDepressed nasal bridgeFinger syndactylyHallux varusBroad hallux phalanxShort halluxBroad thumbMidface retrusionSmall hand
Classification & Codes
Orphanet Code
ORPHA:93260Pfeiffer syndrome type 3
| Orphanet | ORPHA:93260 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO