← 返回搜尋

Brachymorphism-onychodysplasia-dysphalangism syndrome

ORPHA:1292 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(14)

  • Absent fingernailHP:0001817
  • Absent toenailHP:0001802
  • BrachydactylyHP:0001156
  • Delayed skeletal maturationHP:0002750
  • Fingernail dysplasiaHP:0100798
  • Hypoplastic fifth fingernailHP:0008398
  • Hypoplastic fingernailHP:0001804
  • Hypoplastic toenailsHP:0001800
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • Short distal phalanx of toeHP:0001857
  • Short statureHP:0004322
  • Toenail dysplasiaHP:0100797
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(11)

  • Biparietal narrowingHP:0004422
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • Intrauterine growth retardationHP:0001511
  • Malar flatteningHP:0000272
  • Pointed chinHP:0000307
  • Prominent noseHP:0000448
  • StrabismusHP:0000486
  • Triangular faceHP:0000325
  • Wide mouthHP:0000154

Occasional (29-5%)(13)

  • Abnormal mitral valve morphologyHP:0001633
  • Abnormality of the respiratory systemHP:0002086
  • Atrial septal defectHP:0001631
  • BrachycephalyHP:0000248
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarse facial featuresHP:0000280
  • Generalized hirsutismHP:0002230
  • High anterior hairlineHP:0009890
  • Inguinal herniaHP:0000023
  • Mild intellectual disabilityHP:0001256
  • Symphalangism affecting the phalanges of the handHP:0009773
  • Thick eyebrowHP:0000574
  • Umbilical herniaHP:0001537