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Orofaciodigital syndrome type 2

ORPHA:2751 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(1)

  • Cleft palateHP:0000175

Frequent (79-30%)(18)

  • Abnormal oral frenulum morphologyHP:0000190
  • Agenesis of central incisorHP:0006289
  • Bifid tongueHP:0010297
  • Broad first metatarsalHP:0010068
  • Broad halluxHP:0010055
  • Complete duplication of hallux phalanxHP:0010100
  • Finger clinodactylyHP:0040019
  • Finger syndactylyHP:0006101
  • Hamartoma of tongueHP:0011802
  • High palateHP:0000218
  • Hypoplasia of teethHP:0000685
  • Median cleft upper lipHP:0000161
  • Preaxial foot polydactylyHP:0001841
  • Short statureHP:0004322
  • Submucous cleft soft palateHP:0011819
  • Tongue nodulesHP:0000199
  • Wide nasal bridgeHP:0000431
  • Y-shaped metacarpalsHP:0006042

Occasional (29-5%)(26)

  • Abnormal cardiovascular system morphologyHP:0030680
  • ApneaHP:0002104
  • Arachnoid cystHP:0100702
  • Atrioventricular canal defectHP:0006695
  • Central retinal vessel vascular tortuosityHP:0007768
  • Conductive hearing impairmentHP:0000405
  • Cone-shaped epiphyses of the phalanges of the handHP:0010230
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Hand polydactylyHP:0001161
  • Hypoplasia of the epiglottisHP:0005349
  • Limb undergrowthHP:0009826
  • Mesomelic leg shorteningHP:0004987
  • MicrognathiaHP:0000347
  • Peg-shaped maxillary lateral incisorsHP:0006342
  • Polysyndactyly of halluxHP:0005873
  • Postaxial hand polydactylyHP:0001162
  • Protruding earHP:0000411
  • Short tibiaHP:0005736
  • TachypneaHP:0002789
  • Talon cuspHP:0011087
  • TaurodontiaHP:0000679
  • TelecanthusHP:0000506
  • Thick hairHP:0100874
  • Unilateral alveolar cleft of maxillaHP:0410033
  • Velopharyngeal insufficiencyHP:0000220

Very rare (<4-1%)(4)

  • AdactylyHP:0009776
  • Bilateral tonic-clonic seizureHP:0002069
  • Hypoplastic male external genitaliaHP:0000050
  • Natal toothHP:0000695