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Autosomal recessive faciodigitogenital syndrome

ORPHA:1974 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(20)

  • Anteverted naresHP:0000463
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Deep philtrumHP:0002002
  • Down-sloping shouldersHP:0200021
  • Everted lower lip vermilionHP:0000232
  • Finger syndactylyHP:0006101
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • Long faceHP:0000276
  • Long neckHP:0000472
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • Posteriorly rotated earsHP:0000358
  • Shawl scrotumHP:0000049
  • Short noseHP:0003196
  • TelecanthusHP:0000506
  • Triangular faceHP:0000325
  • Wide mouthHP:0000154

Frequent (79-30%)(7)

  • BrachycephalyHP:0000248
  • Frontal bossingHP:0002007
  • Open biteHP:0010807
  • Overfolded helixHP:0000396
  • Prominent nasal bridgeHP:0000426
  • Short footHP:0001773
  • Short statureHP:0004322

Occasional (29-5%)(7)

  • Coarse hairHP:0002208
  • Dry hairHP:0011359
  • Hyperextensible skinHP:0000974
  • Hypopigmentation of hairHP:0005599
  • MicrognathiaHP:0000347
  • Upslanted palpebral fissureHP:0000582
  • Widow's peakHP:0000349