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Brachydactyly-short stature-retinitis pigmentosa syndrome

ORPHA:166035 · Malformation syndrome · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the nervous systemHP:0000707
  • BrachydactylyHP:0001156
  • Retinal degenerationHP:0000546
  • Short statureHP:0004322

Frequent (79-30%)(6)

  • Delayed speech and language developmentHP:0000750
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • NyctalopiaHP:0000662
  • Rod-cone dystrophyHP:0000510

Occasional (29-5%)(35)

  • Abnormal electroretinogramHP:0000512
  • Abnormal vena cava morphologyHP:0005345
  • Abnormality of pattern visual evoked potentialsHP:0030455
  • Abnormality of the endocrine systemHP:0000818
  • Absent eyebrowHP:0002223
  • Absent eyelashesHP:0000561
  • AlopeciaHP:0001596
  • Broad columellaHP:0010761
  • Cafe-au-lait spotHP:0000957
  • Cerebral cortical atrophyHP:0002120
  • Chiari type I malformationHP:0007099
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Delayed gross motor developmentHP:0002194
  • Downslanted palpebral fissuresHP:0000494
  • Frontal bossingHP:0002007
  • Hallux valgusHP:0001822
  • Heart murmurHP:0030148
  • Horseshoe kidneyHP:0000085
  • IchthyosisHP:0008064
  • Inguinal herniaHP:0000023
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • Metaphyseal chondrodysplasiaHP:0005871
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • Neonatal hypotoniaHP:0001319
  • Pes planusHP:0001763
  • Renal cystHP:0000107
  • Short metacarpalHP:0010049
  • Small nailHP:0001792
  • Underdeveloped nasal alaeHP:0000430
  • Ventricular septal defectHP:0001629
  • Visual field defectHP:0001123