← 返回搜尋

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

ORPHA:1555 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(26)

  • Abnormal skull morphologyHP:0000929
  • Abnormality of the faceHP:0000271
  • Abnormality of the pancreasHP:0001732
  • Acanthosis nigricansHP:0000956
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • Choanal atresiaHP:0000453
  • Cloverleaf skullHP:0002676
  • Depressed nasal bridgeHP:0005280
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • Hearing abnormalityHP:0000364
  • Hypoplasia of the zygomatic boneHP:0010669
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272
  • Melanocytic nevusHP:0000995
  • Midface retrusionHP:0011800
  • Palmoplantar cutis gyrataHP:0007469
  • Palmoplantar keratodermaHP:0000982
  • Preauricular skin furrowHP:0004450
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • Respiratory distressHP:0002098
  • Subcutaneous noduleHP:0001482
  • Tooth agenesisHP:0009804
  • TurricephalyHP:0000262
  • Visceral angiomatosisHP:0100761

Frequent (79-30%)(4)

  • Bifid scrotumHP:0000048
  • CraniosynostosisHP:0001363
  • Narrow palateHP:0000189
  • Prominent scrotal rapheHP:0003246

Occasional (29-5%)(14)

  • Abnormal nail morphologyHP:0001597
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Anteriorly placed anusHP:0001545
  • Anteverted naresHP:0000463
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • HypertensionHP:0000822
  • Narrow mouthHP:0000160
  • Optic atrophyHP:0000648
  • Thickened helicesHP:0000391
  • Umbilical herniaHP:0001537