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Bonnevie-Ullrich syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Bonnevie Ullrich Syndrome; Bonnevie-Ullrich Syndrome; Status Bonnevie Ullrich; Status Bonnevie-Ullrich
SNOMED CT: Bonnevie-Ullrich syndrome (38804009)
Monarch Initiative: MONDO:0100492


A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBonnevie-Ullrich syndrome

Professional guidelines


Aiyegbusi OL, Hughes SE, Turner G, Rivera SC, McMullan C, Chandan JS, Haroon S, Price G, Davies EH, Nirantharakumar K, Sapey E, Calvert MJ; TLC Study Group
J R Soc Med 2021 Sep;114(9):428-442. Epub 2021 Jul 15 doi: 10.1177/01410768211032850. PMID: 34265229Free PMC Article
Chung SA, Langford CA, Maz M, Abril A, Gorelik M, Guyatt G, Archer AM, Conn DL, Full KA, Grayson PC, Ibarra MF, Imundo LF, Kim S, Merkel PA, Rhee RL, Seo P, Stone JH, Sule S, Sundel RP, Vitobaldi OI, Warner A, Byram K, Dua AB, Husainat N, James KE, Kalot MA, Lin YC, Springer JM, Turgunbaev M, Villa-Forte A, Turner AS, Mustafa RA
Arthritis Rheumatol 2021 Aug;73(8):1366-1383. Epub 2021 Jul 8 doi: 10.1002/art.41773. PMID: 34235894
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699

Recent clinical studies


Urol Int 1965;19:165-77. doi: 10.1159/000279290. PMID: 14302405
J Assoc Physicians India 1964 Oct;12:731-5. PMID: 14226334
Pediatrics 1961 Sep;28:508-10. PMID: 13761077
J Pediatr 1955 Jul;47(1):48-59. doi: 10.1016/s0022-3476(55)80123-0. PMID: 14392553

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