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Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071 · Malformation syndrome · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(26)

  • Absent lacrimal punctumHP:0001092
  • Brittle hairHP:0002299
  • Coarse hairHP:0002208
  • Conductive hearing impairmentHP:0000405
  • ErythrodermaHP:0001019
  • Fine hairHP:0002213
  • Generalized hypopigmentationHP:0007513
  • Generalized hypopigmentation of hairHP:0011358
  • Generalized hypotrichosisHP:0004528
  • Growth delayHP:0001510
  • Hyperconvex nailHP:0001795
  • HypodontiaHP:0000668
  • Hypopigmented skin patchesHP:0001053
  • Hypoplasia of the maxillaHP:0000327
  • Nail dystrophyHP:0008404
  • ScarringHP:0100699
  • Short philtrumHP:0000322
  • Skin erosionHP:0200041
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Sparse hairHP:0008070
  • Thin skinHP:0000963
  • Thin upper lip vermilionHP:0000219
  • Uncombable hairHP:0030056
  • Underdeveloped nasal alaeHP:0000430
  • Widely spaced teethHP:0000687

Frequent (79-30%)(21)

  • 2-3 toe cutaneous syndactylyHP:0005709
  • AnkyloblepharonHP:0009755
  • AnonychiaHP:0001798
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Delayed speech and language developmentHP:0000750
  • Diminished health-related quality of lifeHP:0033665
  • Failure to thrive in infancyHP:0001531
  • Hairshafts with longitudinal groovesHP:0034542
  • HammertoeHP:0001765
  • HypohidrosisHP:0000966
  • HypospadiasHP:0000047
  • Lacrimal duct atresiaHP:0000564
  • Localized hypoplasia of dental enamelHP:0011074
  • MicrognathiaHP:0000347
  • Scarring alopecia of scalpHP:0004552
  • Short toeHP:0001831
  • Small nailHP:0001792
  • Small, conical teethHP:0200141
  • TrismusHP:0000211
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(10)

  • 3-4 finger cutaneous syndactylyHP:0011939
  • 3-4 toe cutaneous syndactylyHP:6000648
  • Atresia of the external auditory canalHP:0000413
  • Broad halluxHP:0010055
  • Camptodactyly of fingerHP:0100490
  • Cupped earHP:0000378
  • EctrodactylyHP:0100257
  • Narrow mouthHP:0000160
  • Palmoplantar keratodermaHP:0000982
  • Ulnar deviation of fingerHP:0009465

Very rare (<4-1%)(2)

  • MicropenisHP:0000054
  • Supernumerary nippleHP:0002558