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Orofaciodigital syndrome type 4

ORPHA:2753 · Malformation syndrome · Disorder

HPO 表現型（共 69 項）

Very frequent (99-80%)(42)

  • Abnormal joint morphologyHP:0001367
  • Abnormal oral frenulum morphologyHP:0000190
  • Abnormal oral mucosa morphologyHP:0011830
  • Abnormality of eye movementHP:0000496
  • Abnormality of the gingivaHP:0000168
  • Abnormality of the outer earHP:0000356
  • Abnormality of the tongueHP:0000157
  • Absent testisHP:0010469
  • Aplasia/Hypoplasia of the mandibleHP:0009118
  • Aplasia/Hypoplasia of the tibiaHP:0005772
  • Choanal atresiaHP:0000453
  • Conductive hearing impairmentHP:0000405
  • Decreased testicular sizeHP:0008734
  • Depressed nasal ridgeHP:0000457
  • Finger syndactylyHP:0006101
  • Genu varumHP:0002970
  • Global developmental delayHP:0001263
  • HamartomaHP:0010566
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Joint dislocationHP:0001373
  • LaryngomalaciaHP:0001601
  • Low-set earsHP:0000369
  • Median cleft upper lipHP:0000161
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Microtia, third degreeHP:0011267
  • MonorchismHP:0030868
  • OligohydramniosHP:0001562
  • Oral synechiaHP:0010285
  • Orofacial cleftHP:0000202
  • Postaxial hand polydactylyHP:0001162
  • Posteriorly rotated earsHP:0000358
  • Preaxial hand polydactylyHP:0001177
  • Recurrent respiratory infectionsHP:0002205
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • Short noseHP:0003196
  • Specific learning disabilityHP:0001328
  • Wide noseHP:0000445

Frequent (79-30%)(13)

  • Bifid uvulaHP:0000193
  • Camptodactyly of fingerHP:0100490
  • Cerebral cortical atrophyHP:0002120
  • Cerebral cortical hemiatrophyHP:0100308
  • Cleft palateHP:0000175
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • High, narrow palateHP:0002705
  • ProptosisHP:0000520
  • Split handHP:0001171
  • Subcortical cerebral atrophyHP:0012157
  • Submucous cleft hard palateHP:0000176

Occasional (29-5%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the earHP:0000598
  • Absent crus of helixHP:0011255
  • Anal atresiaHP:0002023
  • Bilateral lung agenesisHP:0005944
  • Hypoplastic toenailsHP:0001800
  • Perineal fistulaHP:0004871
  • Primary adrenal insufficiencyHP:0008207
  • Pulmonary hypoplasiaHP:0002089
  • Rectal atresiaHP:0025023
  • Rectovaginal fistulaHP:0000143
  • Renal agenesisHP:0000104
  • Renal hypoplasia/aplasiaHP:0008678
  • Short philtrumHP:0000322