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Thanatophoric dysplasia type 2

ORPHA:93274 · Clinical subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(18)

  • Abnormal metaphysis morphologyHP:0000944
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • BrachydactylyHP:0001156
  • Cloverleaf skullHP:0002676
  • Cognitive impairmentHP:0100543
  • Depressed nasal bridgeHP:0005280
  • Flat faceHP:0012368
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • MacrocephalyHP:0000256
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • PlatyspondylyHP:0000926
  • Redundant skinHP:0001582
  • Respiratory insufficiencyHP:0002093
  • Short statureHP:0004322
  • Short thoraxHP:0010306
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(8)

  • Frontal bossingHP:0002007
  • Hearing impairmentHP:0000365
  • Increased nuchal translucencyHP:0010880
  • KyphosisHP:0002808
  • PolyhydramniosHP:0001561
  • ProptosisHP:0000520
  • SeizureHP:0001250
  • VentriculomegalyHP:0002119

Occasional (29-5%)(9)

  • Abnormality of neuronal migrationHP:0002269
  • Abnormality of the kidneyHP:0000077
  • Acanthosis nigricansHP:0000956
  • Atrial septal defectHP:0001631
  • EncephaloceleHP:0002084
  • HoloprosencephalyHP:0001360
  • HydrocephalusHP:0000238
  • Limitation of joint mobilityHP:0001376
  • Patent ductus arteriosusHP:0001643