← 返回搜尋

Char syndrome

ORPHA:46627 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(11)

  • Depressed nasal bridgeHP:0005280
  • Depressed nasal ridgeHP:0000457
  • Downslanted palpebral fissuresHP:0000494
  • Everted lower lip vermilionHP:0000232
  • HypertelorismHP:0000316
  • Malar flatteningHP:0000272
  • Patent ductus arteriosusHP:0001643
  • PtosisHP:0000508
  • Short philtrumHP:0000322
  • Thick vermilion borderHP:0012471
  • Triangular mouthHP:0000207

Frequent (79-30%)(3)

  • Clinodactyly of the 5th fingerHP:0004209
  • Mesoaxial hand polydactylyHP:0006159
  • Short middle phalanx of the 5th fingerHP:0004220

Occasional (29-5%)(14)

  • Agenesis of permanent teethHP:0006349
  • Fifth finger symphalangismHP:0004218
  • Global developmental delayHP:0001263
  • Hand polydactylyHP:0001161
  • Hearing impairmentHP:0000365
  • Mesoaxial foot polydactylyHP:0010112
  • MyopiaHP:0000545
  • Persistence of primary teethHP:0006335
  • Prominent occiputHP:0000269
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Supernumerary nippleHP:0002558
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629