Peutz-Jeghers syndrome
- Synonyms
- Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome
- Modes of inheritance
- Autosomal dominant inheritance (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:
- Thomas J McGarrity
- Christopher I Amos
- Maria J Baker
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (182 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Iron deficiency anemia
Iron deficiency anemia
- MedGen UID: 57668
- Concept ID: C0162316
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Iron deficiency anemia
- Abnormality of head or neck
- Labial melanotic macule
Labial melanotic macule
- MedGen UID: 1686062
- Concept ID: C5229936
- Finding: Disease or Syndrome
Abnormality of head or neck
- Nasal polyposis
Nasal polyposis
- MedGen UID: 6524
- Concept ID: C0027430
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Oral melanotic macule
Oral melanotic macule
- MedGen UID: 1690341
- Concept ID: C5139352
- Finding: Finding
Abnormality of head or neck
- Labial melanotic macule
- Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clubbing of fingers
Clubbing of fingers
- MedGen UID: 3129
- Concept ID: C0009080
- Finding: Finding
Abnormality of limbs
- Clubbing
- Abnormality of the breast
- Breast carcinoma
Breast carcinoma
- MedGen UID: 146260
- Concept ID: C0678222
- Finding: Neoplastic Process
Abnormality of the breast
- Gynecomastia
Gynecomastia
- MedGen UID: 6694
- Concept ID: C0018418
- Finding: Disease or Syndrome
Abnormality of the breast
- Breast carcinoma
- Abnormality of the digestive system
- Bile duct polyp
Bile duct polyp
- MedGen UID: 1815091
- Concept ID: C5706185
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Biliary tract abnormality
Biliary tract abnormality
- MedGen UID: 108201
- Concept ID: C0549613
- Finding: Finding
Abnormality of the digestive system
- Bloody diarrhea
Bloody diarrhea
- MedGen UID: 56232
- Concept ID: C0151594
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastric polyposis
Gastric polyposis
- MedGen UID: 68629
- Concept ID: C0236048
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastrointestinal carcinoma
Gastrointestinal carcinoma
- MedGen UID: 57467
- Concept ID: C0151544
- Finding: Neoplastic Process
Abnormality of the digestive system
- Intestinal bleeding
Intestinal bleeding
- MedGen UID: 75632
- Concept ID: C0267373
- Finding: Finding
Abnormality of the digestive system
- Intussusception
Intussusception
- MedGen UID: 43940
- Concept ID: C0021933
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Neoplasm of the pancreas
Neoplasm of the pancreas
- MedGen UID: 18279
- Concept ID: C0030297
- Finding: Neoplastic Process
Abnormality of the digestive system
- Rectal prolapse
Rectal prolapse
- MedGen UID: 11151
- Concept ID: C0034888
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Bile duct polyp
- Abnormality of the genitourinary system
- Abnormality of the ureter
Abnormality of the ureter
- MedGen UID: 374455
- Concept ID: C1840382
- Finding: Finding
Abnormality of the genitourinary system
- Bladder polyp
Bladder polyp
- MedGen UID: 107952
- Concept ID: C0586737
- Finding: Neoplastic Process
Abnormality of the genitourinary system
- Ovarian cyst
Ovarian cyst
- MedGen UID: 14540
- Concept ID: C0029927
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Abnormality of the ureter
- Abnormality of the integument
- Hypermelanotic macule
Hypermelanotic macule
- MedGen UID: 375013
- Concept ID: C1842774
- Finding: Finding
Abnormality of the integument
- Hypermelanotic macule
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- Neoplasm
- Hamartomatous polyposis
Hamartomatous polyposis
- MedGen UID: 474435
- Concept ID: C3272802
- Finding: Disease or Syndrome
Neoplasm
- Neoplasm of uterus
Neoplasm of uterus
- MedGen UID: 12030
- Concept ID: C0042138
- Finding: Neoplastic Process
Neoplasm
- Precocious puberty with Sertoli cell tumor
Precocious puberty with Sertoli cell tumor
- MedGen UID: 357406
- Concept ID: C1868007
- Finding: Finding
Neoplasm
- Hamartomatous polyposis
- NCI PDQ, Genetics of Colorectal CancerGenetics of Colorectal Cancer (PDQ®): Health Professional Version
- NCI PDQ, Breast and Gynecologic CancersGenetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
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