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Thanatophoric dysplasia type 1

ORPHA:1860 · Clinical subtype · Subtype of disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(21)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal sacroiliac joint morphologyHP:0100781
  • Bowing of the long bonesHP:0006487
  • BrachydactylyHP:0001156
  • Depressed nasal bridgeHP:0005280
  • Femoral bowingHP:0002980
  • Flat faceHP:0012368
  • Hypoplastic iliaHP:0000946
  • HypotoniaHP:0001252
  • Lethal short-limbed short statureHP:0008909
  • MacrocephalyHP:0000256
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • PlatyspondylyHP:0000926
  • Profound intellectual disabilityHP:0002187
  • Redundant skinHP:0001582
  • Respiratory insufficiencyHP:0002093
  • Short femurHP:0003097
  • Short greater sciatic notchHP:0003185
  • Skeletal dysplasiaHP:0002652
  • Split handHP:0001171

Frequent (79-30%)(10)

  • Aplasia/Hypoplasia of the lungsHP:0006703
  • Excessive wrinkled skinHP:0007392
  • Frontal bossingHP:0002007
  • Hearing impairmentHP:0000365
  • Increased nuchal translucencyHP:0010880
  • KyphosisHP:0002808
  • PolyhydramniosHP:0001561
  • ProptosisHP:0000520
  • VentriculomegalyHP:0002119
  • Wide anterior fontanelHP:0000260

Occasional (29-5%)(9)

  • Abnormality of the kidneyHP:0000077
  • Acanthosis nigricansHP:0000956
  • Atrial septal defectHP:0001631
  • Cloverleaf skullHP:0002676
  • Gray matter heterotopiaHP:0002282
  • HydrocephalusHP:0000238
  • Joint stiffnessHP:0001387
  • Patent ductus arteriosusHP:0001643
  • SeizureHP:0001250