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Oculoectodermal syndrome

ORPHA:3339 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(7)

  • Abnormal conjunctiva morphologyHP:0000502
  • Abnormal nervous system morphologyHP:0012639
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Generalized hyperpigmentationHP:0007440
  • Limbal dermoidHP:0001140

Frequent (79-30%)(23)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the earHP:0000598
  • Abnormality of the ureterHP:0000069
  • Aganglionic megacolonHP:0002251
  • Anteverted naresHP:0000463
  • BlepharophimosisHP:0000581
  • BrachydactylyHP:0001156
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Laryngeal hypoplasiaHP:0008749
  • MacrocephalyHP:0000256
  • PolyhydramniosHP:0001561
  • ProptosisHP:0000520
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Short palpebral fissureHP:0012745
  • StrabismusHP:0000486
  • TelecanthusHP:0000506

Occasional (29-5%)(6)

  • Abnormal facial shapeHP:0001999
  • Abnormal penis morphologyHP:0000036
  • Abnormality of the bladderHP:0000014
  • EpispadiasHP:0000039
  • Eyelid colobomaHP:0000625
  • HypospadiasHP:0000047