← 返回搜尋

Brachytelephalangic chondrodysplasia punctata

ORPHA:79345 · Malformation syndrome · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(4)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Hypoplasia of the maxillaHP:0000327
  • Short distal phalanx of fingerHP:0009882
  • Short noseHP:0003196

Frequent (79-30%)(11)

  • Abnormality of the vertebral columnHP:0000925
  • Broad nasal tipHP:0000455
  • Depressed nasal ridgeHP:0000457
  • Epiphyseal stipplingHP:0010655
  • Hypoplasia of the anterior nasal spineHP:0010666
  • Mixed hearing impairmentHP:0000410
  • Postnatal growth retardationHP:0008897
  • Proportionate short statureHP:0003508
  • Punctate vertebral calcificationsHP:0008420
  • Short columellaHP:0002000
  • Short distal phalanx of toeHP:0001857

Occasional (29-5%)(31)

  • Abnormal bronchus morphologyHP:0025426
  • Abnormal hyoid bone morphologyHP:3000052
  • Abnormal ossification involving the femoral head and neckHP:0009107
  • Abnormality of the costochondral junctionHP:0000919
  • AsthmaHP:0002099
  • Atlantoaxial instabilityHP:0003467
  • Butterfly vertebraeHP:0003316
  • C1-C2 subluxationHP:0003320
  • Calcaneal epiphyseal stipplingHP:0004695
  • Central apneaHP:0002871
  • Cervical cord compressionHP:0002341
  • Cervical kyphosisHP:0002947
  • Cervical spinal canal stenosisHP:0008445
  • Cervical spine instabilityHP:0010646
  • Cervical vertebral dysplasiaHP:0008469
  • Coronal cleft vertebraeHP:0003417
  • Epiphyseal stippling of toe phalangesHP:0010171
  • Global developmental delayHP:0001263
  • Hypoplastic cervical vertebraeHP:0008434
  • Laryngeal calcificationHP:0008754
  • Nasal congestionHP:0001742
  • Neonatal respiratory distressHP:0002643
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Spinal canal stenosisHP:0003416
  • Stippling of the epiphyses of the distal phalanges of the handHP:0010255
  • TachypneaHP:0002789
  • Thick nasal alaeHP:0009928
  • Tracheal calcificationHP:0002787
  • Tracheal stenosisHP:0002777
  • Vertebral hypoplasiaHP:0008417

Very rare (<4-1%)(9)

  • Atrial septal defectHP:0001631
  • CataractHP:0000518
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Optic disc hypoplasiaHP:0007766
  • Optic nerve hypoplasiaHP:0000609
  • Patent ductus arteriosusHP:0001643
  • Pulmonary artery stenosisHP:0004415
  • Ventricular septal defectHP:0001629

Excluded (0%)(1)

  • Increased nuchal translucencyHP:0010880