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Lenz-Majewski hyperostotic dysplasia

ORPHA:2658 · Malformation syndrome · Disorder

HPO 表現型（共 58 項）

Very frequent (99-80%)(30)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal metaphysis morphologyHP:0000944
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Aplastic clavicleHP:0006660
  • BrachydactylyHP:0001156
  • Broad foreheadHP:0000337
  • Choanal atresiaHP:0000453
  • Cranial hyperostosisHP:0004437
  • Delayed cranial suture closureHP:0000270
  • Delayed skeletal maturationHP:0002750
  • Facial hyperostosisHP:0005465
  • Finger syndactylyHP:0006101
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Increased bone mineral densityHP:0011001
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Large fontanellesHP:0000239
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • OsteopetrosisHP:0011002
  • Prematurely aged appearanceHP:0007495
  • Redundant skinHP:0001582
  • Severe short statureHP:0003510
  • Short palmHP:0004279
  • Specific learning disabilityHP:0001328
  • Symphalangism affecting the phalanges of the handHP:0009773
  • Thickened calvariaHP:0002684

Frequent (79-30%)(13)

  • Abnormal finger morphologyHP:0001167
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal nasolacrimal system morphologyHP:0000614
  • Abnormal penis morphologyHP:0000036
  • CryptorchidismHP:0000028
  • Elbow ankylosisHP:0003070
  • EpispadiasHP:0000039
  • Facial palsyHP:0010628
  • Femoral herniaHP:0100541
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154

Occasional (29-5%)(15)

  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Bifid uvulaHP:0000193
  • Cleft palateHP:0000175
  • External genital hypoplasiaHP:0003241
  • High, narrow palateHP:0002705
  • HydrocephalusHP:0000238
  • Hyperconvex fingernailsHP:0001812
  • HypogonadismHP:0000135
  • Hypoplastic fingernailHP:0001804
  • HypotoniaHP:0001252
  • KyphosisHP:0002808
  • Limitation of joint mobilityHP:0001376
  • ScoliosisHP:0002650
  • Submucous cleft hard palateHP:0000176