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Camurati-Engelmann disease
ORPHA:1328 · Malformation syndrome · Disorder
HPO 表現型（共 54 項）
Very frequent (99-80%)(15)
- Abnormal diaphysis morphologyHP:0000940
- Abnormal femur morphologyHP:0002823
- Abnormal humerus morphologyHP:0031095
- Abnormal morphology of the radiusHP:0002818
- Abnormal morphology of ulnaHP:0040071
- Abnormal skull morphologyHP:0000929
- Abnormality of the vertebral columnHP:0000925
- Aplasia/Hypoplasia of the radiusHP:0006501
- Bone painHP:0002653
- CachexiaHP:0004326
- Cortical thickening of long bone diaphysesHP:0005791
- Craniofacial osteosclerosisHP:0005464
- Elevated circulating aldolase concentrationHP:0012544
- HyperostosisHP:0100774
- Skeletal dysplasiaHP:0002652
Frequent (79-30%)(6)
- Abnormal tibia morphologyHP:0002992
- Limitation of joint mobilityHP:0001376
- Metaphyseal dysplasiaHP:0100255
- Muscle weaknessHP:0001324
- Skeletal muscle atrophyHP:0003202
- Waddling gaitHP:0002515
Occasional (29-5%)(33)
- Abnormal facial shapeHP:0001999
- Abnormal pelvic girdle bone morphologyHP:0002644
- Abnormal speech patternHP:0002167
- Abnormal subcutaneous fat tissue distributionHP:0007552
- AnemiaHP:0001903
- AnorexiaHP:0002039
- AtaxiaHP:0001251
- Carious teethHP:0000670
- Coxa valgaHP:0002673
- Decreased total leukocyte countHP:0001882
- Delayed eruption of teethHP:0000684
- Delayed pubertyHP:0000823
- Elevated erythrocyte sedimentation rateHP:0003565
- Facial palsyHP:0010628
- Feeding difficulties in infancyHP:0008872
- Frontal bossingHP:0002007
- Genu valgumHP:0002857
- GlaucomaHP:0000501
- Hearing impairmentHP:0000365
- HepatomegalyHP:0002240
- HyperlordosisHP:0003307
- Hypertrophic cardiomyopathyHP:0001639
- HypogonadismHP:0000135
- KyphosisHP:0002808
- Optic atrophyHP:0000648
- Optic nerve compressionHP:0007807
- Pes planusHP:0001763
- ProptosisHP:0000520
- ScoliosisHP:0002650
- Sensory neuropathyHP:0000763
- Slender buildHP:0001533
- SplenomegalyHP:0001744
- Urinary retentionHP:0000016