Pfeiffer syndrome
ORPHA: 710
Overview
acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull
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, sourced from HPO and Orphanet clinical annotations.
Open mouthHigh palateTurricephalyMandibular prognathiaHypertelorismShort philtrumFacial asymmetryHigh foreheadWide nasal bridgeShort neckPtosisBrachydactylyHip dysplasiaHyperlordosisClinodactyly of the 5th fingerShort statureSynostosis of carpal bonesFinger syndactylyHypoplasia of the zygomatic boneBroad thumbFlat face
Classification & Codes
Orphanet Code
ORPHA:710Pfeiffer syndrome
| Orphanet | ORPHA:710 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO