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Focal dermal hypoplasia

ORPHA:2092 · Malformation syndrome · Disorder

HPO 表現型（共 107 項）

Very frequent (99-80%)(10)

  • Diffuse skin atrophyHP:0007488
  • Facial asymmetryHP:0000324
  • Focal dermal aplasia/hypoplasiaHP:0007510
  • Labial hypoplasiaHP:0000066
  • Mixed hypo- and hyperpigmentation of the skinHP:0009123
  • Nail dysplasiaHP:0002164
  • Nail dystrophyHP:0008404
  • Primary microcephalyHP:0011451
  • Ridged nailHP:0001807
  • Split nailHP:0001809

Frequent (79-30%)(47)

  • Abnormal helix morphologyHP:0011039
  • Abnormal subcutaneous fat tissue distributionHP:0007552
  • Aplasia cutis congenitaHP:0001057
  • Brittle hairHP:0002299
  • Broad nasal tipHP:0000455
  • Chorioretinal colobomaHP:0000567
  • Cognitive impairmentHP:0100543
  • ConstipationHP:0002019
  • Cutaneous photosensitivityHP:0000992
  • Dental malocclusionHP:0000689
  • Dry skinHP:0000958
  • EctrodactylyHP:0100257
  • Enamel hypoplasiaHP:0006297
  • ErythemaHP:0010783
  • Fine hairHP:0002213
  • Fragile skinHP:0001030
  • FrecklingHP:0001480
  • HerniaHP:0100790
  • HypodontiaHP:0000668
  • HypohidrosisHP:0000966
  • Hypoplasia of the maxillaHP:0000327
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • Lower limb asymmetryHP:0100559
  • MicrophthalmiaHP:0000568
  • Multiple lentiginesHP:0001003
  • Narrow nasal bridgeHP:0000446
  • NystagmusHP:0000639
  • Palmoplantar keratodermaHP:0000982
  • PapillomaHP:0012740
  • Patchy alopeciaHP:0002232
  • Pointed chinHP:0000307
  • PruritusHP:0000989
  • Short long boneHP:0003026
  • Short statureHP:0004322
  • Skin erosionHP:0200041
  • Skin noduleHP:0200036
  • Small nailHP:0001792
  • Sparse hairHP:0008070
  • Subcutaneous noduleHP:0001482
  • SyndactylyHP:0001159
  • Telangiectasia of the skinHP:0100585
  • Thin skinHP:0000963
  • Tooth agenesisHP:0009804
  • Trichorrhexis nodosaHP:0009886
  • Underdeveloped nasal alaeHP:0000430

Occasional (29-5%)(36)

  • Abdominal painHP:0002027
  • Abnormal heart morphologyHP:0001627
  • Abnormal rib morphologyHP:0000772
  • AdactylyHP:0009776
  • AerophagiaHP:6000060
  • AnonychiaHP:0001798
  • AnophthalmiaHP:0000528
  • Atypical scarring of skinHP:0000987
  • CataractHP:0000518
  • Cleft ala nasiHP:0003191
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Corneal opacityHP:0007957
  • Duodenal atresiaHP:0002247
  • EsotropiaHP:0000565
  • ExophoriaHP:0025313
  • Food allergyHP:0500093
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • Inguinal herniaHP:0000023
  • Intestinal malrotationHP:0002566
  • KyphoscoliosisHP:0002751
  • Low-set earsHP:0000369
  • MicrocorneaHP:0000482
  • OmphaloceleHP:0001539
  • Osteopathia striataHP:0010740
  • Pili canaliculiHP:0002235
  • Pili tortiHP:0003777
  • PolydactylyHP:0010442
  • Poor wound healingHP:0001058
  • Renal cystHP:0000107
  • StrabismusHP:0000486
  • Transverse terminal limb defectHP:6000818
  • Umbilical herniaHP:0001537
  • Vertebral fusionHP:0002948

Very rare (<4-1%)(14)

  • Abdominal ectopia cordisHP:0011582
  • Abnormal mediastinum morphologyHP:0045026
  • Absent nippleHP:0002561
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • EctropionHP:0000656
  • Elevated pulmonary artery pressureHP:0004890
  • Giant cell tumor of boneHP:0011847
  • Horseshoe kidneyHP:0000085
  • HydronephrosisHP:0000126
  • OligodontiaHP:0000677
  • Renal hypoplasia/aplasiaHP:0008678
  • Spina bifidaHP:0002414
  • Supernumerary nippleHP:0002558
  • Ventricular septal defectHP:0001629