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De Barsy syndrome

ORPHA:2962 · Disease · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(52)

  • Adducted thumbHP:0001181
  • AthetosisHP:0002305
  • BrachycephalyHP:0000248
  • Congenital hip dislocationHP:0001374
  • Corneal opacityHP:0007957
  • Coxa varaHP:0002812
  • Cutis laxaHP:0000973
  • Decreased fetal movementHP:0001558
  • Decreased muscle massHP:0003199
  • Deeply set eyeHP:0000490
  • Delayed closure of the anterior fontanelleHP:0001476
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Delayed speech and language developmentHP:0000750
  • Dermal translucencyHP:0010648
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Floppy infantHP:0008947
  • Fragmented elastic fibers in the dermisHP:0025167
  • Generalized joint hypermobilityHP:0002761
  • Global developmental delayHP:0001263
  • High myopiaHP:0011003
  • High palateHP:0000218
  • Hypernasal speechHP:0001611
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • Inguinal herniaHP:0000023
  • Intrauterine growth retardationHP:0001511
  • KyphoscoliosisHP:0002751
  • Large earlobeHP:0009748
  • LipodystrophyHP:0009125
  • Low-set earsHP:0000369
  • Narrow mouthHP:0000160
  • OsteopeniaHP:0000938
  • Pectus excavatumHP:0000767
  • Postnatal growth retardationHP:0008897
  • Premature rupture of membranesHP:0001788
  • Progeroid facial appearanceHP:0005328
  • Progressive microcephalyHP:0000253
  • Prominent foreheadHP:0011220
  • Prominent nasolabial foldHP:0005272
  • Prominent veins on trunkHP:0007457
  • Recurrent sinopulmonary infectionsHP:0005425
  • Short statureHP:0004322
  • Small, conical teethHP:0200141
  • Sparse hairHP:0008070
  • Talipes calcaneovalgusHP:0001884
  • Talipes equinovarusHP:0001762
  • Thin skinHP:0000963
  • Umbilical herniaHP:0001537
  • Wormian bonesHP:0002645

Frequent (79-30%)(8)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal fundus fluorescein angiographyHP:0030604
  • Blue scleraeHP:0000592
  • CataractHP:0000518
  • Cerebellar vermis hypoplasiaHP:0001320
  • Excessive wrinkled skinHP:0007392
  • Progressive cerebellar ataxiaHP:0002073
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(5)

  • Bilateral sensorineural hearing impairmentHP:0008619
  • CryptorchidismHP:0000028
  • Hypoplastic aortic archHP:0012304
  • Patent ductus arteriosusHP:0001643
  • Persistent left superior vena cavaHP:0005301

Excluded (0%)(1)

  • EmphysemaHP:0002097