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Roifman syndrome

ORPHA:353298 · Disease · Disorder

HPO 表現型（共 39 項）

Frequent (79-30%)(37)

  • Biconvex vertebral bodiesHP:0004625
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachydactylyHP:0001156
  • Broad femoral headHP:0008804
  • Clinodactyly of the 5th fingerHP:0004209
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Delayed proximal femoral epiphyseal ossificationHP:0008828
  • Downturned corners of mouthHP:0002714
  • Eczematoid dermatitisHP:0000964
  • Epiphyseal dysplasiaHP:0002656
  • Generalized hypotoniaHP:0001290
  • HepatosplenomegalyHP:0001433
  • Hip contractureHP:0003273
  • Hippocampal atrophyHP:0410170
  • Hyperconvex nailHP:0001795
  • HypertelorismHP:0000316
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of the corpus callosumHP:0002079
  • Increased total eosinophil countHP:0001880
  • Intrauterine growth retardationHP:0001511
  • Irregular capital femoral epiphysisHP:0005041
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • LymphadenopathyHP:0002716
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Narrow nasal bridgeHP:0000446
  • Postnatal growth retardationHP:0008897
  • Prominent eyelashesHP:0011231
  • Recurrent otitis mediaHP:0000403
  • Recurrent pneumoniaHP:0006532
  • Retinal dystrophyHP:0000556
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Spondyloepiphyseal dysplasiaHP:0002655
  • Thin upper lip vermilionHP:0000219
  • Underdeveloped nasal alaeHP:0000430

Very rare (<4-1%)(1)

  • Noncompaction cardiomyopathyHP:0012817

Excluded (0%)(1)

  • Decreased T cell activationHP:0005419