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Autosomal recessive cutis laxa type 2, classic type

ORPHA:357074 · Clinical subtype · Subtype of disorder

HPO 表現型（共 57 項）

Obligate (100%)(1)

  • Delayed closure of the anterior fontanelleHP:0001476

Very frequent (99-80%)(42)

  • Abnormal isoelectric focusing of serum transferrinHP:0003160
  • Abnormal subcutaneous fat tissue distributionHP:0007552
  • Anteverted naresHP:0000463
  • Broad nasal tipHP:0000455
  • Carious teethHP:0000670
  • Coarse hairHP:0002208
  • Cutis laxaHP:0000973
  • Decreased muscle massHP:0003199
  • Delayed speech and language developmentHP:0000750
  • DementiaHP:0000726
  • Downslanted palpebral fissuresHP:0000494
  • Excessive wrinkled skinHP:0007392
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Fragmented elastic fibers in the dermisHP:0025167
  • Generalized joint hypermobilityHP:0002761
  • Global developmental delayHP:0001263
  • High myopiaHP:0011003
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • LipodystrophyHP:0009125
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • Motor delayHP:0001270
  • Poor speechHP:0002465
  • Postnatal growth retardationHP:0008897
  • Profound intellectual disabilityHP:0002187
  • Progressive microcephalyHP:0000253
  • Prominent nasolabial foldHP:0005272
  • Prominent veins on trunkHP:0007457
  • Psychomotor deteriorationHP:0002361
  • Redundant neck skinHP:0005989
  • Redundant skinHP:0001582
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319
  • Sparse hairHP:0008070
  • Thick cerebral cortexHP:0006891
  • Thick hairHP:0100874

Frequent (79-30%)(12)

  • Abnormal circulating apolipoprotein concentrationHP:0025201
  • Cerebellar hypoplasiaHP:0001321
  • Congenital hip dislocationHP:0001374
  • Dandy-Walker malformationHP:0001305
  • Inguinal herniaHP:0000023
  • LissencephalyHP:0001339
  • PachygyriaHP:0001302
  • PolymicrogyriaHP:0002126
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • StrabismusHP:0000486
  • Sub-retinal pigment epithelium haemorrhageHP:0025244

Occasional (29-5%)(1)

  • Abnormality of the intrinsic pathwayHP:0010989

Excluded (0%)(1)

  • EmphysemaHP:0002097