cardiocranial syndrome, Pfeiffer type
MeSH: C535578ORPHA: 2872
Overview
disease
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 cardiocranial syndrome, Pfeiffer type, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsDeep palmar creaseSparse hairPlantar flexion contractureContracture of the proximal interphalangeal joint of the 2nd fingerSmall hypothenar eminenceCutaneous syndactyly of toesAbnormal hair whorlProminent foreheadMicrognathiaLow-set earsGlobal developmental delayGrowth delayIntrauterine growth retardationSagittal craniosynostosisTemporomandibular joint ankylosisCryptorchidismHypospadiasMicropenisBifid uvulaDolichocephalyBroad philtrumHypertelorismWide nasal bridgeTorticollisDownslanted palpebral fissuresSlender fingerIntellectual disabilityUmbilical herniaAbnormal heart morphologyHigh, narrow palateAbnormal tracheal morphologyEpisodic tachypneaShort stature
Classification & Codes
MeSH Code
C535578Orphanet Code
ORPHA:2872cardiocranial syndrome, Pfeiffer type
| MeSH | C535578 |
| Orphanet | ORPHA:2872 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO