Pfeiffer syndrome type 1
ORPHA: 93258
Overview
Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development
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 1, sourced from HPO and Orphanet clinical annotations.
High palateBrachycephalyHypertelorismHigh foreheadHearing impairmentLow-set earsProptosisToe syndactylyShort footAqueductal stenosisShort noseShort palmDepressed nasal bridgeFinger syndactylyHallux varusAplasia/Hypoplasia of the thumbBroad hallux phalanxShort halluxBroad thumbBicoronal synostosisMidface retrusion
Classification & Codes
Orphanet Code
ORPHA:93258Pfeiffer syndrome type 1
| Orphanet | ORPHA:93258 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO