← 返回搜尋

Silver-Russell syndrome due to an imprinting defect of 11p15

ORPHA:231140 · Etiological subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(6)

  • Asymmetric growthHP:0100555
  • Delayed skeletal maturationHP:0002750
  • Short chinHP:0000331
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Triangular faceHP:0000325

Frequent (79-30%)(11)

  • Clinodactyly of the 5th fingerHP:0004209
  • Decreased body weightHP:0004325
  • Dental crowdingHP:0000678
  • Feeding difficulties in infancyHP:0008872
  • High palateHP:0000218
  • Lower limb asymmetryHP:0100559
  • Postnatal growth retardationHP:0008897
  • Prominent foreheadHP:0011220
  • Protruding earHP:0000411
  • Relative macrocephalyHP:0004482
  • Upper limb asymmetryHP:0100560

Occasional (29-5%)(9)

  • Abnormal external genitalia morphologyHP:0000811
  • Diastasis rectiHP:0001540
  • HypoglycemiaHP:0001943
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • Neonatal hypoglycemiaHP:0001998
  • Nevus flammeusHP:0001052
  • PolydactylyHP:0010442
  • SeizureHP:0001250

Very rare (<4-1%)(2)

  • Delayed closure of the anterior fontanelleHP:0001476
  • HyperhidrosisHP:0000975