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Fibulo-ulnar hypoplasia-renal anomalies syndrome

ORPHA:2256 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(14)

  • Aplasia of the proximal phalanges of the handHP:0010242
  • Aplasia/Hypoplasia of the fibulaHP:0006492
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Finger syndactylyHP:0006101
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Hypoplasia of the ulnaHP:0003022
  • MicrognathiaHP:0000347
  • PolyhydramniosHP:0001561
  • Premature birthHP:0001622
  • Protruding earHP:0000411
  • Short long boneHP:0003026
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(8)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal mesentery morphologyHP:0100016
  • CryptorchidismHP:0000028
  • Hypoplasia of penisHP:0008736
  • Renal hypoplasiaHP:0000089
  • Shawl scrotumHP:0000049
  • Single umbilical arteryHP:0001195
  • Ventricular septal defectHP:0001629