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Acrofacial dysostosis, Catania type

ORPHA:1786 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(17)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal palate morphologyHP:0000174
  • Abnormality of the dentitionHP:0000164
  • BrachydactylyHP:0001156
  • Carious teethHP:0000670
  • Downslanted palpebral fissuresHP:0000494
  • Finger syndactylyHP:0006101
  • High foreheadHP:0000348
  • Hypoplasia of the zygomatic boneHP:0010669
  • MicrocephalyHP:0000252
  • MicroretrognathiaHP:0000308
  • Mild intellectual disabilityHP:0001256
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Short statureHP:0004322
  • Small handHP:0200055
  • Smooth philtrumHP:0000319

Frequent (79-30%)(8)

  • Abnormal hair patternHP:0010720
  • Bilateral single transverse palmar creasesHP:0007598
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • Feeding difficulties in infancyHP:0008872
  • Intrauterine growth retardationHP:0001511
  • Posteriorly rotated earsHP:0000358
  • Preauricular pitHP:0004467

Occasional (29-5%)(10)

  • Clinodactyly of the 5th fingerHP:0004209
  • Coarse hairHP:0002208
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Pectus excavatumHP:0000767
  • Premature birthHP:0001622
  • Spina bifida occultaHP:0003298
  • Tessier cleftHP:0002006
  • Tooth agenesisHP:0009804
  • Webbed neckHP:0000465