← 返回搜尋

Craniofrontonasal dysplasia

ORPHA:1520 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(8)

  • BrachycephalyHP:0000248
  • CraniosynostosisHP:0001363
  • Depressed nasal ridgeHP:0000457
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Midline defect of the noseHP:0004122
  • Ridged fingernailHP:0008402
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(28)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormality of hair textureHP:0010719
  • Abnormality of the dentitionHP:0000164
  • BrachydactylyHP:0001156
  • Broad hallux phalanxHP:0010059
  • Camptodactyly of fingerHP:0100490
  • Clinodactyly of the 5th fingerHP:0004209
  • Congenital pseudoarthrosis of the clavicleHP:0006585
  • Down-sloping shouldersHP:0200021
  • Downslanted palpebral fissuresHP:0000494
  • Facial asymmetryHP:0000324
  • Finger syndactylyHP:0006101
  • Hand polydactylyHP:0001161
  • High palateHP:0000218
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • Orofacial cleftHP:0000202
  • PlagiocephalyHP:0001357
  • Sandal gapHP:0001852
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Sprengel anomalyHP:0000912
  • Thickened nuchal skin foldHP:0000474
  • Widow's peakHP:0000349
  • Woolly hairHP:0002224

Occasional (29-5%)(6)

  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Congenital diaphragmatic herniaHP:0000776
  • Hypoplasia of the corpus callosumHP:0002079
  • HypospadiasHP:0000047
  • Pectus excavatumHP:0000767
  • Shawl scrotumHP:0000049