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Ellis-Van Creveld syndrome
ORPHA:289 · Malformation syndrome · Disorder
HPO 表現型（共 51 項）
Very frequent (99-80%)(19)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal fingernail morphologyHP:0001231
- Abnormal hair morphologyHP:0001595
- Abnormal heart valve morphologyHP:0001654
- Abnormal nail morphologyHP:0001597
- Abnormal oral mucosa morphologyHP:0011830
- Abnormality of the dentitionHP:0000164
- Atrioventricular canal defectHP:0006695
- Failure to thriveHP:0001508
- Foot polydactylyHP:0001829
- Genu valgumHP:0002857
- Hand polydactylyHP:0001161
- Hypoplastic toenailsHP:0001800
- MicromeliaHP:0002983
- Nail dysplasiaHP:0002164
- Narrow chestHP:0000774
- Neonatal short-limb short statureHP:0008921
- Short distal phalanx of fingerHP:0009882
- Short thoraxHP:0010306
Frequent (79-30%)(18)
- Abnormal oral frenulum morphologyHP:0000190
- Abnormal pelvic girdle bone morphologyHP:0002644
- Abnormality of the kidneyHP:0000077
- Abnormality of the ureterHP:0000069
- Aplasia/Hypoplasia of the lungsHP:0006703
- Atrial septal defectHP:0001631
- Capitate-hamate fusionHP:0001241
- Conical incisorHP:0011065
- CryptorchidismHP:0000028
- DextrocardiaHP:0001651
- EpispadiasHP:0000039
- HypodontiaHP:0000668
- HypospadiasHP:0000047
- Intrauterine growth retardationHP:0001511
- MicrodontiaHP:0000691
- Situs inversus totalisHP:0001696
- StrabismusHP:0000486
- Ventricular septal defectHP:0001629
Occasional (29-5%)(14)
- Abnormal bone marrow cell morphologyHP:0005561
- Abnormal hair quantityHP:0011362
- Abnormal morphology of female internal genitaliaHP:0000008
- Abnormality of the skeletal systemHP:0000924
- Acute leukemiaHP:0002488
- Cubitus valgusHP:0002967
- Delayed eruption of teethHP:0000684
- Delayed skeletal maturationHP:0002750
- EmphysemaHP:0002097
- HydroureterHP:0000072
- Intellectual disabilityHP:0001249
- Renal hypoplasia/aplasiaHP:0008678
- Synostosis of carpal bonesHP:0005048
- Thin vermilion borderHP:0000233