Pallister-Hall syndrome
- Synonyms
- Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Leslie G Biesecker
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Choanal atresia
Choanal atresia
- MedGen UID: 3395
- Concept ID: C0008297
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft upper lip
Cleft upper lip
- MedGen UID: 40327
- Concept ID: C0008924
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Microglossia
Microglossia
- MedGen UID: 10029
- Concept ID: C0025988
- Finding: Congenital Abnormality
Abnormality of head or neck
- Natal tooth
Natal tooth
- MedGen UID: 10268
- Concept ID: C0027443
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Distal shortening of limbs
Distal shortening of limbs
- MedGen UID: 327072
- Concept ID: C1840307
- Finding: Finding
Abnormality of limbs
- Mesoaxial foot polydactyly
Mesoaxial foot polydactyly
- MedGen UID: 866976
- Concept ID: C4021333
- Finding: Congenital Abnormality
Abnormality of limbs
- Mesoaxial hand polydactyly
Mesoaxial hand polydactyly
- MedGen UID: 893020
- Concept ID: C4021606
- Finding: Anatomical Abnormality
Abnormality of limbs
- Mesomelia
Mesomelia
- MedGen UID: 107808
- Concept ID: C0549306
- Finding: Congenital Abnormality
Abnormality of limbs
- Oligodactyly
Oligodactyly
- MedGen UID: 854358
- Concept ID: C3887496
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial foot polydactyly
Postaxial foot polydactyly
- MedGen UID: 384489
- Concept ID: C2112129
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Disease or Syndrome
Abnormality of limbs
- Preaxial foot polydactyly
Preaxial foot polydactyly
- MedGen UID: 389171
- Concept ID: C2112942
- Finding: Finding
Abnormality of limbs
- Preaxial hand polydactyly
Preaxial hand polydactyly
- MedGen UID: 237235
- Concept ID: C1395852
- Finding: Congenital Abnormality
Abnormality of limbs
- Preaxial polydactyly
Preaxial polydactyly
- MedGen UID: 87498
- Concept ID: C0345354
- Finding: Congenital Abnormality
Abnormality of limbs
- Short 4th metacarpal
Short 4th metacarpal
- MedGen UID: 327074
- Concept ID: C1840309
- Finding: Finding
Abnormality of limbs
- Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers
- MedGen UID: 867248
- Concept ID: C4021608
- Finding: Finding
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Toe syndactyly
Toe syndactyly
- MedGen UID: 75581
- Concept ID: C0265660
- Finding: Congenital Abnormality
Abnormality of limbs
- Y-shaped metacarpals
Y-shaped metacarpals
- MedGen UID: 348341
- Concept ID: C1861373
- Finding: Finding
Abnormality of limbs
- Y-shaped metatarsals
Y-shaped metatarsals
- MedGen UID: 869363
- Concept ID: C4023789
- Finding: Pathologic Function
Abnormality of limbs
- Distal shortening of limbs
- Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Preductal coarctation of the aorta
Preductal coarctation of the aorta
- MedGen UID: 539555
- Concept ID: C0265878
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
- Abnormality of the digestive system
- Anteriorly placed anus
Anteriorly placed anus
- MedGen UID: 333160
- Concept ID: C1838705
- Finding: Finding
Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Anteriorly placed anus
- Abnormality of the endocrine system
- Adrenal hypoplasia
Adrenal hypoplasia
- MedGen UID: 337539
- Concept ID: C1846223
- Finding: Pathologic Function
Abnormality of the endocrine system
- Decreased circulating cortisol level
Decreased circulating cortisol level
- MedGen UID: 322961
- Concept ID: C1836623
- Finding: Finding
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Precocious puberty
Precocious puberty
- MedGen UID: 18752
- Concept ID: C0034013
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Thyroid dysgenesis
Thyroid dysgenesis
- MedGen UID: 289647
- Concept ID: C1563716
- Finding: Congenital Abnormality
Abnormality of the endocrine system
- Adrenal hypoplasia
- Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Decreased testicular size
Decreased testicular size
- MedGen UID: 66027
- Concept ID: C0241355
- Finding: Finding
Abnormality of the genitourinary system
- Distal urethral duplication
Distal urethral duplication
- MedGen UID: 870199
- Concept ID: C4024634
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Ectopic kidney
Ectopic kidney
- MedGen UID: 68661
- Concept ID: C0238207
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydroureter
Hydroureter
- MedGen UID: 101073
- Concept ID: C0521620
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nail dysplasia
- Abnormality of the musculoskeletal system
- Hemivertebrae
Hemivertebrae
- MedGen UID: 82720
- Concept ID: C0265677
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Radial head subluxation
Radial head subluxation
- MedGen UID: 56213
- Concept ID: C0149977
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Rib fusion
Rib fusion
- MedGen UID: 78570
- Concept ID: C0265695
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hemivertebrae
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hamartoma of hypothalamus
Hamartoma of hypothalamus
- MedGen UID: 137970
- Concept ID: C0342418
- Finding: Finding
Abnormality of the nervous system
- Holoprosencephaly sequence
Holoprosencephaly sequence
- MedGen UID: 38214
- Concept ID: C0079541
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Panhypopituitarism
Panhypopituitarism
- MedGen UID: 69171
- Concept ID: C0242343
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
- Abnormality of the respiratory system
- Abnormal lung lobation
Abnormal lung lobation
- MedGen UID: 195782
- Concept ID: C0685695
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Bifid epiglottis
Bifid epiglottis
- MedGen UID: 137932
- Concept ID: C0339864
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Hypoplasia of the epiglottis
Hypoplasia of the epiglottis
- MedGen UID: 235600
- Concept ID: C1396772
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Laryngeal cleft
Laryngeal cleft
- MedGen UID: 327075
- Concept ID: C1840311
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Abnormal lung lobation
- Ear malformation
- Atresia of the external auditory canal
Atresia of the external auditory canal
- MedGen UID: 78613
- Concept ID: C0266597
- Finding: Congenital Abnormality
Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Atresia of the external auditory canal
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Fetal growth restriction
- Neoplasm
- Midline facial capillary hemangioma
Midline facial capillary hemangioma
- MedGen UID: 333532
- Concept ID: C1840310
- Finding: Finding
Neoplasm
- Midline facial capillary hemangioma
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