← 返回搜尋

Ramos-Arroyo syndrome

ORPHA:1051 · Malformation syndrome · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(2)

  • Abnormal midface morphologyHP:0000309
  • Decreased corneal sensationHP:0012155

Frequent (79-30%)(21)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Absent retinal pigment epitheliumHP:0007980
  • Aganglionic megacolonHP:0002251
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Broad faceHP:0000283
  • Choriocapillaris atrophyHP:0030491
  • Concave nasal ridgeHP:0011120
  • Decreased body weightHP:0004325
  • Delayed gross motor developmentHP:0002194
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • KeratitisHP:0000491
  • Nasolacrimal duct obstructionHP:0000579
  • Patent ductus arteriosusHP:0001643
  • Prominent foreheadHP:0011220
  • Reduced visual acuityHP:0007663
  • Severe failure to thriveHP:0001525
  • Severe short statureHP:0003510
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(23)

  • Anteverted naresHP:0000463
  • Atrial septal defectHP:0001631
  • Carious teethHP:0000670
  • Choanal stenosisHP:0000452
  • Chorioretinal atrophyHP:0000533
  • Chronic constipationHP:0012450
  • Corneal ulcerationHP:0012804
  • DacryocystitisHP:0000620
  • Deviated nasal septumHP:0004411
  • Feeding difficulties in infancyHP:0008872
  • Food intoleranceHP:0012537
  • High anterior hairlineHP:0009890
  • Long philtrumHP:0000343
  • Narrow mouthHP:0000160
  • Narrow palpebral fissureHP:0045025
  • Primary microcephalyHP:0011451
  • Respiratory distressHP:0002098
  • Self-mutilationHP:0000742
  • Shoulder dimpleHP:0010782
  • Sleep-wake cycle disturbanceHP:0006979
  • Smooth tongueHP:0010298
  • Sparse scalp hairHP:0002209
  • XerostomiaHP:0000217