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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

ORPHA:96182 · Etiological subtype · Subtype of disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(4)

  • Delayed skeletal maturationHP:0002750
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Postnatal growth retardationHP:0008897

Frequent (79-30%)(19)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the outer earHP:0000356
  • Asymmetric growthHP:0100555
  • BrachydactylyHP:0001156
  • ClinodactylyHP:0030084
  • Delayed speech and language developmentHP:0000750
  • Downturned corners of mouthHP:0002714
  • Failure to thriveHP:0001508
  • Fasting hypoglycemiaHP:0003162
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • Global developmental delayHP:0001263
  • Motor delayHP:0001270
  • Prominent foreheadHP:0011220
  • Relative macrocephalyHP:0004482
  • Small for gestational ageHP:0001518
  • SyndactylyHP:0001159
  • Thin vermilion borderHP:0000233
  • Triangular faceHP:0000325

Occasional (29-5%)(34)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormally high-pitched voiceHP:0001620
  • AspirationHP:0002835
  • Clinodactyly of the 5th fingerHP:0004209
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Decreased muscle massHP:0003199
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed closure of the anterior fontanelleHP:0001476
  • Dental crowdingHP:0000678
  • EsophagitisHP:0100633
  • Frontal bossingHP:0002007
  • High, narrow palateHP:0002705
  • HyperhidrosisHP:0000975
  • HypospadiasHP:0000047
  • Increased overbiteHP:0011094
  • Insulin resistanceHP:0000855
  • Lower limb asymmetryHP:0100559
  • MicrodontiaHP:0000691
  • Narrow joint spaces of the elbowHP:0003944
  • Narrow mouthHP:0000160
  • Obstructive sleep apneaHP:0002870
  • Oral aversionHP:0012523
  • Pierre-Robin sequenceHP:0000201
  • Poor appetiteHP:0004396
  • Precocious pubertyHP:0000826
  • Premature adrenarcheHP:0012412
  • ScoliosisHP:0002650
  • Severe intrauterine growth retardationHP:0008846
  • Short chinHP:0000331
  • Shoulder dimpleHP:0010782
  • Specific learning disabilityHP:0001328
  • VomitingHP:0002013

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

  • Horseshoe kidneyHP:0000085
  • Renal dysplasiaHP:0000110