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Meckel syndrome

ORPHA:564 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(6)

  • Congenital hepatic fibrosisHP:0002612
  • EncephaloceleHP:0002084
  • MicrocephalyHP:0000252
  • Multicystic kidney dysplasiaHP:0000003
  • Postaxial foot polydactylyHP:0001830
  • Postaxial hand polydactylyHP:0001162

Frequent (79-30%)(19)

  • Abnormal chorioretinal morphologyHP:0000532
  • Ambiguous genitaliaHP:0000062
  • Aplasia/Hypoplasia of the irisHP:0008053
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Depressed nasal ridgeHP:0000457
  • Full cheeksHP:0000293
  • HypertelorismHP:0000316
  • Lobar holoprosencephalyHP:0006870
  • MicrocorneaHP:0000482
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • OligohydramniosHP:0001562
  • Optic atrophyHP:0000648
  • Posteriorly rotated earsHP:0000358
  • SclerocorneaHP:0000647
  • Sloping foreheadHP:0000340
  • TalipesHP:0001883

Occasional (29-5%)(20)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Accessory spleenHP:0001747
  • AnencephalyHP:0002323
  • AnophthalmiaHP:0000528
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aplasia/Hypoplasia of the tongueHP:0010295
  • AspleniaHP:0001746
  • Bowing of the long bonesHP:0006487
  • Cystic liver diseaseHP:0006706
  • Dandy-Walker malformationHP:0001305
  • Furrowed tongueHP:0000221
  • HydrocephalusHP:0000238
  • Male pseudohermaphroditismHP:0000037
  • Pancreatic cystsHP:0001737
  • Pancreatic fibrosisHP:0100732
  • Preaxial hand polydactylyHP:0001177
  • Situs inversus totalisHP:0001696
  • True hermaphroditismHP:0010459
  • Ureteral duplicationHP:0000073
  • Urethral atresiaHP:0000068