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Broad ischia

MedGen UID:
324622
Concept ID:
C1836868
Finding
HPO: HP:0100865

Definition

Increased width of the ischium, which forms the lower and back part of the hip bone. [from HPO]

Conditions with this feature

Spondylometaphyseal dysplasia, A4 type
MedGen UID:
324620
Concept ID:
C1836862
Disease or Syndrome
The spondylometaphyseal dysplasias are a relatively common, heterogeneous group of disorders characterized by spinal and metaphyseal changes of variable pattern and severity. The classification of spondylometaphyseal dysplasias of Maroteaux and Spranger (1991) was based on changes of the femoral neck and the shape of vertebral anomalies. In this classification, type A4 referred to a form with severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
Fibrochondrogenesis 1
MedGen UID:
479768
Concept ID:
C3278138
Disease or Syndrome
Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.
Craniotubular dysplasia, Ikegawa type
MedGen UID:
1806238
Concept ID:
C5575335
Disease or Syndrome
Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life (Guo et al., 2021).
Stüve-Wiedemann syndrome 1
MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.

Professional guidelines

PubMed

Mehling WE, Gopisetty V, Bartmess E, Acree M, Pressman A, Goldberg H, Hecht FM, Carey T, Avins AL
Spine (Phila Pa 1976) 2012 Apr 15;37(8):678-84. doi: 10.1097/BRS.0b013e318230ab20. PMID: 22504516Free PMC Article
Jensen TS, Albert HB, Sorensen JS, Manniche C, Leboeuf-Yde C
J Manipulative Physiol Ther 2007 Feb;30(2):98-108. doi: 10.1016/j.jmpt.2006.12.004. PMID: 17320730

Recent clinical studies

Etiology

Mancuso-Marcello M, Demetriades AK
J Neurosurg Sci 2023 Jun;67(3):355-359. Epub 2020 Dec 15 doi: 10.23736/S0390-5616.20.05243-1. PMID: 33320471
Siddiq MAB, Rasker JJ
Clin Rheumatol 2019 Jul;38(7):1811-1821. Epub 2019 May 2 doi: 10.1007/s10067-019-04552-y. PMID: 31049761
Pagano G, Talamanca AA, Castello G, Cordero MD, d'Ischia M, Gadaleta MN, Pallardó FV, Petrović S, Tiano L, Zatterale A
Oxid Med Cell Longev 2014;2014:541230. Epub 2014 May 4 doi: 10.1155/2014/541230. PMID: 24876913Free PMC Article
Hayden JA, Chou R, Hogg-Johnson S, Bombardier C
J Clin Epidemiol 2009 Aug;62(8):781-796.e1. Epub 2009 Jan 10 doi: 10.1016/j.jclinepi.2008.09.004. PMID: 19136234
McLain RF, Kapural L, Mekhail NA
Spine J 2005 Mar-Apr;5(2):191-201. doi: 10.1016/j.spinee.2004.10.046. PMID: 15749619

Diagnosis

Naber WJ 2nd, Netzloff CL, Bakshi RR
Am J Phys Med Rehabil 2023 Aug 1;102(8):e103-e105. Epub 2023 Feb 3 doi: 10.1097/PHM.0000000000002203. PMID: 36753441
Hu J, Jin X, Jiang Y, Li W, Hu J
World Neurosurg 2021 May;149:316-324. Epub 2020 Sep 28 doi: 10.1016/j.wneu.2020.09.131. PMID: 32992062
Troutner AM, Battaglia PJ
J Am Assoc Nurse Pract 2020 Aug;32(8):589-593. doi: 10.1097/JXX.0000000000000288. PMID: 31567779
van Tulder M, Peul W, Koes B
Nat Rev Rheumatol 2010 Mar;6(3):139-45. Epub 2010 Feb 9 doi: 10.1038/nrrheum.2010.3. PMID: 20142811
Hayden JA, Chou R, Hogg-Johnson S, Bombardier C
J Clin Epidemiol 2009 Aug;62(8):781-796.e1. Epub 2009 Jan 10 doi: 10.1016/j.jclinepi.2008.09.004. PMID: 19136234

Therapy

Hu J, Jin X, Jiang Y, Li W, Hu J
World Neurosurg 2021 May;149:316-324. Epub 2020 Sep 28 doi: 10.1016/j.wneu.2020.09.131. PMID: 32992062
Mahan MA
J Neurosurg 2019 Jan 11;132(1):252-259. doi: 10.3171/2018.8.JNS173181. PMID: 30641829
O'Kane D, Baldwin GS, Bolton DM, Ischia JJ, Patel O
J Nephrol 2019 Aug;32(4):539-547. Epub 2019 Jan 11 doi: 10.1007/s40620-019-00582-6. PMID: 30635875
van Tulder M, Peul W, Koes B
Nat Rev Rheumatol 2010 Mar;6(3):139-45. Epub 2010 Feb 9 doi: 10.1038/nrrheum.2010.3. PMID: 20142811
McLain RF, Kapural L, Mekhail NA
Spine J 2005 Mar-Apr;5(2):191-201. doi: 10.1016/j.spinee.2004.10.046. PMID: 15749619

Prognosis

d'Ischia M, Manini P, Moracci M, Saladino R, Ball V, Thissen H, Evans RA, Puzzarini C, Barone V
Int J Mol Sci 2019 Aug 21;20(17) doi: 10.3390/ijms20174079. PMID: 31438518Free PMC Article
van Tulder M, Peul W, Koes B
Nat Rev Rheumatol 2010 Mar;6(3):139-45. Epub 2010 Feb 9 doi: 10.1038/nrrheum.2010.3. PMID: 20142811
Hayden JA, Chou R, Hogg-Johnson S, Bombardier C
J Clin Epidemiol 2009 Aug;62(8):781-796.e1. Epub 2009 Jan 10 doi: 10.1016/j.jclinepi.2008.09.004. PMID: 19136234
McLain RF, Kapural L, Mekhail NA
Spine J 2005 Mar-Apr;5(2):191-201. doi: 10.1016/j.spinee.2004.10.046. PMID: 15749619
Appelboom T
Clin Rheumatol 1989 Dec;8(4):442-52. doi: 10.1007/BF02032095. PMID: 2692946

Clinical prediction guides

d'Ischia M, Manini P, Moracci M, Saladino R, Ball V, Thissen H, Evans RA, Puzzarini C, Barone V
Int J Mol Sci 2019 Aug 21;20(17) doi: 10.3390/ijms20174079. PMID: 31438518Free PMC Article
Lindquist J, Bäckryd E
Scand J Pain 2016 Jul;12:68-73. Epub 2016 May 10 doi: 10.1016/j.sjpain.2016.04.008. PMID: 28850497
de Moura Batista L, Acioly MA, Carvalho CH, Ebner FH, Tatagiba M
J Neurosurg Spine 2008 Feb;8(2):163-8. doi: 10.3171/SPI/2008/8/2/163. PMID: 18248288
Jensen TS, Albert HB, Sorensen JS, Manniche C, Leboeuf-Yde C
J Manipulative Physiol Ther 2007 Feb;30(2):98-108. doi: 10.1016/j.jmpt.2006.12.004. PMID: 17320730
McLain RF, Kapural L, Mekhail NA
Spine J 2005 Mar-Apr;5(2):191-201. doi: 10.1016/j.spinee.2004.10.046. PMID: 15749619

Recent systematic reviews

Siddiq MAB, Rasker JJ
Clin Rheumatol 2019 Jul;38(7):1811-1821. Epub 2019 May 2 doi: 10.1007/s10067-019-04552-y. PMID: 31049761

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