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Cardiocranial syndrome, Pfeiffer type
ORPHA:2872 · Malformation syndrome · Disorder
HPO 表現型（共 34 項）
Very frequent (99-80%)(7)
- Global developmental delayHP:0001263
- Growth delayHP:0001510
- Intrauterine growth retardationHP:0001511
- Low-set earsHP:0000369
- MicrognathiaHP:0000347
- Sagittal craniosynostosisHP:0004442
- Temporomandibular joint ankylosisHP:0012478
Frequent (79-30%)(27)
- Abnormal hair whorlHP:0010721
- Abnormal heart morphologyHP:0001627
- Abnormal tracheal morphologyHP:0002778
- Bifid uvulaHP:0000193
- Broad philtrumHP:0000289
- Contracture of the proximal interphalangeal joint of the 2nd fingerHP:0009540
- CryptorchidismHP:0000028
- Cutaneous syndactyly of toesHP:0010621
- Deep palmar creaseHP:0006191
- DolichocephalyHP:0000268
- Downslanted palpebral fissuresHP:0000494
- Episodic tachypneaHP:0002876
- High, narrow palateHP:0002705
- HypertelorismHP:0000316
- HypospadiasHP:0000047
- Intellectual disabilityHP:0001249
- MicropenisHP:0000054
- Plantar flexion contractureHP:0008112
- Posteriorly rotated earsHP:0000358
- Prominent foreheadHP:0011220
- Short statureHP:0004322
- Slender fingerHP:0001238
- Small hypothenar eminenceHP:0010487
- Sparse hairHP:0008070
- TorticollisHP:0000473
- Umbilical herniaHP:0001537
- Wide nasal bridgeHP:0000431