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Cerebrofacioarticular syndrome

ORPHA:314679 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • CamptodactylyHP:0012385
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • MicrotiaHP:0008551

Frequent (79-30%)(9)

  • Abnormal tracheal morphologyHP:0002778
  • Conductive hearing impairmentHP:0000405
  • Gastrostomy tube feeding in infancyHP:0011471
  • Large fontanellesHP:0000239
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • OsteopeniaHP:0000938
  • Renal hypoplasiaHP:0000089
  • SyndactylyHP:0001159

Occasional (29-5%)(29)

  • Abnormal heart morphologyHP:0001627
  • Absence of pubertal developmentHP:0008197
  • Agenesis of corpus callosumHP:0001274
  • Anal stenosisHP:0002025
  • Anteriorly placed anusHP:0001545
  • AtaxiaHP:0001251
  • Bilateral choanal atresia/stenosisHP:0200138
  • BlepharophimosisHP:0000581
  • Caudal appendageHP:0002825
  • Cerebellar vermis hypoplasiaHP:0001320
  • Dysplastic corpus callosumHP:0006989
  • EpicanthusHP:0000286
  • Gray matter heterotopiaHP:0002282
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplasia of the maxillaHP:0000327
  • HypospadiasHP:0000047
  • Irregular dentitionHP:0040079
  • LymphedemaHP:0001004
  • MicrocephalyHP:0000252
  • Narrow mouthHP:0000160
  • Pulmonic stenosisHP:0001642
  • Self-injurious behaviorHP:0100716
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Talipes equinovarusHP:0001762
  • TracheomalaciaHP:0002779
  • VentriculomegalyHP:0002119
  • Wide nasal bridgeHP:0000431