cardiocranial syndrome, Pfeiffer type
MONDO:0009036Mondo
Findings
No curated finding names cardiocranial syndrome, Pfeiffer type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).
Definition from the Mondo Disease Ontology (MONDO:0009036), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Sagittal craniosynostosisHPOHP:0004442
- Very frequent (80% to 99% of cases)
- Temporomandibular joint ankylosisHPOHP:0012478
- Very frequent (80% to 99% of cases)
- Abnormal hair whorlHPOHP:0010721
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormal tracheal morphologyHPOHP:0002778
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- Broad philtrumHPOHP:0000289
- Frequent (30% to 79% of cases)
Show the remaining 22
- Contracture of the proximal interphalangeal joint of the 2nd fingerHPOHP:0009540
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Cutaneous syndactyly of toesHPOHP:0010621
- Frequent (30% to 79% of cases)
- Deep palmar creaseHPOHP:0006191
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: cardiocranial syndrome, Pfeiffer type
- Also called
- craniosynostosis-congenital heart disease-intellectual disability syndromePfeiffer-Singer-Zschiesche syndromesagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis