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Thanatophoric dysplasia

ORPHA:2655 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(15)

  • Abnormal metaphysis morphologyHP:0000944
  • Depressed nasal bridgeHP:0005280
  • Disproportionate short-limb short statureHP:0008873
  • Flat faceHP:0012368
  • HypotoniaHP:0001252
  • Increased nuchal translucencyHP:0010880
  • MacrocephalyHP:0000256
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • PlatyspondylyHP:0000926
  • Profound intellectual disabilityHP:0002187
  • Pulmonary hypoplasiaHP:0002089
  • Redundant skinHP:0001582
  • Short thoraxHP:0010306
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(8)

  • BrachydactylyHP:0001156
  • Frontal bossingHP:0002007
  • Gray matter heterotopiaHP:0002282
  • Hearing impairmentHP:0000365
  • Intrauterine growth retardationHP:0001511
  • Midface retrusionHP:0011800
  • ProptosisHP:0000520
  • VentriculomegalyHP:0002119

Occasional (29-5%)(18)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal ilium morphologyHP:0002867
  • Abnormal sacroiliac joint morphologyHP:0100781
  • Abnormality of the kidneyHP:0000077
  • Acanthosis nigricansHP:0000956
  • Atrial septal defectHP:0001631
  • Cloverleaf skullHP:0002676
  • Downslanted palpebral fissuresHP:0000494
  • Hip dysplasiaHP:0001385
  • HydrocephalusHP:0000238
  • Joint hypermobilityHP:0001382
  • Joint stiffnessHP:0001387
  • KyphosisHP:0002808
  • Low-set earsHP:0000369
  • Patent ductus arteriosusHP:0001643
  • PolyhydramniosHP:0001561
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250