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Helsmoortel-Van der Aa syndrome

ORPHA:404448 · Malformation syndrome · Disorder

HPO 表現型（共 80 項）

Very frequent (99-80%)(6)

  • Abnormal speech patternHP:0002167
  • Autistic behaviorHP:0000729
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Reduced social responsivenessHP:0012760
  • Urinary incontinenceHP:0000020

Frequent (79-30%)(14)

  • Abnormal brain morphologyHP:0012443
  • Abnormal finger morphologyHP:0001167
  • Abnormal temper tantrumsHP:0025160
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Chronic constipationHP:0012450
  • Compulsive behaviorsHP:0000722
  • Floppy infantHP:0008947
  • Gastroesophageal refluxHP:0002020
  • Joint hypermobilityHP:0001382
  • Moderate global developmental delayHP:0011343
  • Oral-pharyngeal dysphagiaHP:0200136
  • PolyphagiaHP:0002591
  • Severe global developmental delayHP:0011344

Occasional (29-5%)(39)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal nail morphologyHP:0001597
  • Abnormal toe morphologyHP:0001780
  • Advanced eruption of teethHP:0006288
  • Aggressive behaviorHP:0000718
  • AspirationHP:0002835
  • AstigmatismHP:0000483
  • Bilateral ptosisHP:0001488
  • Cerebral atrophyHP:0002059
  • Cerebral visual impairmentHP:0100704
  • Developmental regressionHP:0002376
  • Focal white matter lesionsHP:0007042
  • Gastrostomy tube feeding in infancyHP:0011471
  • High anterior hairlineHP:0009890
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • Impaired masticationHP:0005216
  • Low-set earsHP:0000369
  • MicrotiaHP:0008551
  • Mild global developmental delayHP:0011342
  • PlagiocephalyHP:0001357
  • PolydactylyHP:0010442
  • Protruding earHP:0000411
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Recurrent urinary tract infectionsHP:0000010
  • Sandal gapHP:0001852
  • Short statureHP:0004322
  • Single transverse palmar creaseHP:0000954
  • Slanting of the palpebral fissureHP:0200006
  • Sleep disturbanceHP:0002360
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • Thick lower lip vermilionHP:0000179
  • Thin upper lip vermilionHP:0000219
  • TrigonocephalyHP:0000243
  • Truncal obesityHP:0001956
  • VentriculomegalyHP:0002119
  • VomitingHP:0002013
  • Wide intermamillary distanceHP:0006610

Very rare (<4-1%)(21)

  • 2-3 toe syndactylyHP:0004691
  • AmblyopiaHP:0000646
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Broad halluxHP:0010055
  • Broad thumbHP:0011304
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • ExotropiaHP:0000577
  • Generalized neonatal hypotoniaHP:0008935
  • HirsutismHP:0001007
  • HypertoniaHP:0001276
  • Inguinal herniaHP:0000023
  • Iris colobomaHP:0000612
  • Juvenile cataractHP:0001118
  • Long palpebral fissureHP:0000637
  • MicrocephalyHP:0000252
  • Respiratory distressHP:0002098
  • SeizureHP:0001250
  • Sparse scalp hairHP:0002209
  • Umbilical herniaHP:0001537