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Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

ORPHA:459061 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Prominent foreheadHP:0011220
  • Short statureHP:0004322
  • Sparse eyebrowHP:0045075
  • Sparse scalp hairHP:0002209

Frequent (79-30%)(10)

  • Abnormality of the kidneyHP:0000077
  • CamptodactylyHP:0012385
  • Cerebellar vermis hypoplasiaHP:0001320
  • Dandy-Walker malformationHP:0001305
  • Depressed nasal bridgeHP:0005280
  • HydrocephalusHP:0000238
  • Hypoplastic toenailsHP:0001800
  • Pes planusHP:0001763
  • Posterior fossa cystHP:0007291
  • TrigonocephalyHP:0000243

Occasional (29-5%)(24)

  • Agenesis of corpus callosumHP:0001274
  • AnxietyHP:0000739
  • Aortic valve stenosisHP:0001650
  • Atrial septal defectHP:0001631
  • Attention deficit hyperactivity disorderHP:0007018
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachycephalyHP:0000248
  • Cleft palateHP:0000175
  • Downslanted palpebral fissuresHP:0000494
  • EnuresisHP:0000805
  • EpicanthusHP:0000286
  • HypertelorismHP:0000316
  • Inguinal herniaHP:0000023
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Mild hearing impairmentHP:0012712
  • Relative macrocephalyHP:0004482
  • Sagittal craniosynostosisHP:0004442
  • ScaphocephalyHP:0030799
  • SeizureHP:0001250
  • Sleep apneaHP:0010535
  • Small handHP:0200055
  • Tubulointerstitial nephritisHP:0001970
  • Widely spaced teethHP:0000687