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Pallister-Hall syndrome

ORPHA:672 · Malformation syndrome · Disorder

HPO 表現型（共 100 項）

Obligate (100%)(1)

  • Hypothalamic hamartomaHP:0002444

Frequent (79-30%)(46)

  • 3-4 finger cutaneous syndactylyHP:0011939
  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Abnormal prolactin levelHP:0040086
  • Accessory oral frenulumHP:0000191
  • Adrenocorticotropic hormone deficiencyHP:0011748
  • Anal atresiaHP:0002023
  • Anteverted naresHP:0000463
  • Atresia of the external auditory canalHP:0000413
  • Bifid uvulaHP:0000193
  • Bilateral postaxial polydactylyHP:0006136
  • BrachydactylyHP:0001156
  • Broad thumbHP:0011304
  • Central adrenal insufficiencyHP:0011734
  • Depressed nasal ridgeHP:0000457
  • Downslanted palpebral fissuresHP:0000494
  • Gonadotropin deficiencyHP:0008213
  • HemivertebraeHP:0002937
  • Hip dislocationHP:0002827
  • HypertelorismHP:0000316
  • HypopituitarismHP:0040075
  • Intrauterine growth retardationHP:0001511
  • Laryngeal cleftHP:0008751
  • MacrocephalyHP:0000256
  • Mesoaxial polydactylyHP:0100260
  • MicrophthalmiaHP:0000568
  • MicrotiaHP:0008551
  • Nail dysplasiaHP:0002164
  • Natal toothHP:0000695
  • Pituitary hypothyroidismHP:0008245
  • Polydactyly affecting the 3rd fingerHP:0009958
  • Polydactyly affecting the 4th fingerHP:0009971
  • Postaxial hand polydactylyHP:0001162
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Radial bowingHP:0002986
  • Radial head subluxationHP:0003048
  • Recurrent upper and lower respiratory tract infectionsHP:0200117
  • Renal dysplasiaHP:0000110
  • Rib fusionHP:0000902
  • Secondary growth hormone deficiencyHP:0008240
  • Short 4th metacarpalHP:0010044
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Supernumerary metacarpal bonesHP:0005917
  • Toe syndactylyHP:0001770

Occasional (29-5%)(38)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal lung lobationHP:0002101
  • Adrenal hypoplasiaHP:0000835
  • Atrial septal defectHP:0001631
  • Atrioventricular canal defectHP:0006695
  • Auricular tagHP:0030021
  • Bifid epiglottisHP:0010564
  • Broad toeHP:0001837
  • Cerebellar hypoplasiaHP:0001321
  • Choanal atresiaHP:0000453
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Coarctation of aortaHP:0001680
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • Ectopic kidneyHP:0000086
  • Facial grimacingHP:0000273
  • Focal emotional seizure with laughingHP:0010821
  • Global developmental delayHP:0001263
  • HoloprosencephalyHP:0001360
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Large for gestational ageHP:0001520
  • MicroglossiaHP:0000171
  • MicropenisHP:0000054
  • MicroretrognathiaHP:0000308
  • Midline facial capillary hemangiomaHP:0007601
  • OligodactylyHP:0012165
  • Overlapping toeHP:0001845
  • PanhypopituitarismHP:0000871
  • Paroxysmal bursts of laughterHP:0000749
  • Patent ductus arteriosusHP:0001643
  • Precocious pubertyHP:0000826
  • Primary adrenal insufficiencyHP:0008207
  • Thyroid hypoplasiaHP:0005990
  • Umbilical herniaHP:0001537
  • Unilateral renal agenesisHP:0000122
  • Ventricular septal defectHP:0001629

Very rare (<4-1%)(15)

  • Ambiguous genitaliaHP:0000062
  • Aplasia/hypoplasia of the uterusHP:0008684
  • Aplasia/Hypoplasia of the vaginaHP:0011026
  • ArrhinencephalyHP:0002139
  • Bilateral renal agenesisHP:0010958
  • Distal arthrogryposisHP:0005684
  • HydrometrocolposHP:0030010
  • Intellectual disabilityHP:0001249
  • OligohydramniosHP:0001562
  • OsteochondromaHP:0030431
  • Respiratory insufficiencyHP:0002093
  • ScaphocephalyHP:0030799
  • Small scrotumHP:0000046
  • TalipesHP:0001883
  • TrigonocephalyHP:0000243