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Zimmermann-Laband syndrome

ORPHA:3473 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Obligate (100%)(1)

  • Gingival fibromatosisHP:0000169

Frequent (79-30%)(11)

  • Absent fingernailHP:0001817
  • Anterior open-bite malocclusionHP:0009102
  • Bulbous noseHP:0000414
  • Generalized hypertrichosisHP:0004554
  • Hypoplastic fingernailHP:0001804
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Large fleshy earsHP:0002265
  • Thickened earsHP:0009894
  • Wide mouthHP:0000154
  • Wide noseHP:0000445

Occasional (29-5%)(26)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal external genitalia morphologyHP:0000811
  • Bifid uvulaHP:0000193
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Downslanted palpebral fissuresHP:0000494
  • Facial hypertrichosisHP:0002219
  • Floppy infantHP:0008947
  • Growth delayHP:0001510
  • Hallux valgusHP:0001822
  • HepatomegalyHP:0002240
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypodontiaHP:0000668
  • Long eyelashesHP:0000527
  • MacroglossiaHP:0000158
  • MicrognathiaHP:0000347
  • Pes cavusHP:0001761
  • Pes planusHP:0001763
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Soft skinHP:0000977
  • SplenomegalyHP:0001744
  • Supernumerary toothHP:0011069
  • TelecanthusHP:0000506
  • Thick eyebrowHP:0000574

Very rare (<4-1%)(5)

  • Deep palmar creaseHP:0006191
  • Deep plantar creasesHP:0001869
  • Generalized hyperpigmentationHP:0007440
  • Overtubulated long bonesHP:0006391
  • Sensorineural hearing impairmentHP:0000407