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Wrinkly skin syndrome

ORPHA:2834 · Clinical subtype · Subtype of disorder

HPO 表現型（共 61 項）

Obligate (100%)(1)

  • Excessive skin wrinkling on dorsum of hands and fingersHP:0007407

Very frequent (99-80%)(52)

  • Abnormal cheek morphologyHP:0004426
  • Abnormal isoelectric focusing of serum transferrinHP:0003160
  • Broad nasal tipHP:0000455
  • Carious teethHP:0000670
  • Congenital hip dislocationHP:0001374
  • Coxa varaHP:0002812
  • CryptorchidismHP:0000028
  • Cutis laxaHP:0000973
  • Decreased muscle massHP:0003199
  • Deep palmar creaseHP:0006191
  • Deep plantar creasesHP:0001869
  • Delayed closure of the anterior fontanelleHP:0001476
  • Delayed eruption of teethHP:0000684
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Excessive wrinkled skinHP:0007392
  • 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 nonceruloplasmin-bound serum copperHP:0010838
  • High palateHP:0000218
  • Hypernasal speechHP:0001611
  • HypertelorismHP:0000316
  • Inguinal herniaHP:0000023
  • Intrauterine growth retardationHP:0001511
  • KyphoscoliosisHP:0002751
  • LipodystrophyHP:0009125
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Multiple palmar creasesHP:0006114
  • Multiple plantar creasesHP:0008113
  • OsteopeniaHP:0000938
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Postnatal growth retardationHP:0008897
  • Premature rupture of membranesHP:0001788
  • Progressive microcephalyHP:0000253
  • Prominent nasolabial foldHP:0005272
  • Prominent veins on trunkHP:0007457
  • Recurrent sinopulmonary infectionsHP:0005425
  • Short statureHP:0004322
  • Slender long bones with narrow diaphysesHP:0004993
  • Small, conical teethHP:0200141
  • Smooth philtrumHP:0000319
  • Sparse hairHP:0008070
  • Thick cerebral cortexHP:0006891
  • Umbilical herniaHP:0001537
  • Wormian bonesHP:0002645

Frequent (79-30%)(6)

  • Atrial septal dilatationHP:0011995
  • Cerebellar vermis hypoplasiaHP:0001320
  • Dandy-Walker malformationHP:0001305
  • Progressive cerebellar ataxiaHP:0002073
  • Slurred speechHP:0001350
  • Status epilepticusHP:0002133

Occasional (29-5%)(1)

  • Abnormality of the intrinsic pathwayHP:0010989

Excluded (0%)(1)

  • EmphysemaHP:0002097