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Robinow syndrome

ORPHA:97360 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Very frequent (99-80%)(2)

  • MesomeliaHP:0003027
  • Short statureHP:0004322

Frequent (79-30%)(5)

  • AcromesomeliaHP:0003086
  • External genital hypoplasiaHP:0003241
  • HypertelorismHP:0000316
  • Mesomelic arm shorteningHP:0005011
  • Small for gestational ageHP:0001518

Occasional (29-5%)(51)

  • Abnormal heart morphologyHP:0001627
  • AnkyloglossiaHP:0010296
  • Anteverted naresHP:0000463
  • Atrial septal defectHP:0001631
  • Bifid distal phalanx of the thumbHP:0009611
  • Bifid tongueHP:0010297
  • BrachydactylyHP:0001156
  • Broad alveolar ridgesHP:0000187
  • Broad nasal tipHP:0000455
  • Clitoral hypoplasiaHP:0000060
  • Coarctation of aortaHP:0001680
  • CryptorchidismHP:0000028
  • Dental crowdingHP:0000678
  • Dental malocclusionHP:0000689
  • Depressed nasal bridgeHP:0005280
  • Flared nostrilsHP:0000454
  • Frontal bossingHP:0002007
  • Fused thoracic vertebraeHP:0030039
  • Gingival overgrowthHP:0000212
  • HemivertebraeHP:0002937
  • High anterior hairlineHP:0009890
  • HydronephrosisHP:0000126
  • HypodontiaHP:0000668
  • Hypoplastic labia majoraHP:0000059
  • KyphoscoliosisHP:0002751
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • Midface retrusionHP:0011800
  • Missing ribsHP:0000921
  • Nail dysplasiaHP:0002164
  • Orofacial cleftHP:0000202
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • Pulmonary valve atresiaHP:0010882
  • Pulmonic stenosisHP:0001642
  • Radioulnar dislocationHP:0006439
  • Rib fusionHP:0000902
  • ScoliosisHP:0002650
  • Short distal phalanx of fingerHP:0009882
  • Short noseHP:0003196
  • Small nailHP:0001792
  • Small scrotumHP:0000046
  • SyndactylyHP:0001159
  • Tooth malpositionHP:0000692
  • Triangular mouthHP:0000207
  • Tricuspid atresiaHP:0011662
  • Ventricular septal defectHP:0001629
  • Webbed penisHP:0030264

Very rare (<4-1%)(7)

  • Decreased serum testosterone concentrationHP:0040171
  • Marked delay in eruption of permanent teethHP:0006291
  • Mixed hearing impairmentHP:0000410
  • Multicystic kidney dysplasiaHP:0000003
  • Neurodevelopmental delayHP:0012758
  • Persistence of primary teethHP:0006335
  • Umbilical herniaHP:0001537