U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Short stature-advanced bone age-early-onset osteoarthritis syndrome

MedGen UID:
1811782
•Concept ID:
C5681177
•
Disease or Syndrome
Synonyms: Short stature, advanced bone age, early-onset osteoarthritis syndrome; short stature-advanced bone age-early-onset osteoarthritis syndrome
SNOMED CT: Short stature, advanced bone age, early-onset osteoarthritis syndrome (1197586007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018566
Orphanet: ORPHA435804

Definition

A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Short stature-advanced bone age-early-onset osteoarthritis syndrome

Professional guidelines

PubMed

Outcomes for Treatment of Capsulolabral Adhesions With a Capsular Spacer During Revision Hip Arthroscopy.
Ruzbarsky JJ, Comfort SM, Martin MD, Briggs KK, Philippon MJ
Am J Sports Med 2023 Feb;51(2):487-493. Epub 2023 Jan 20 doi: 10.1177/03635465221145704. PMID: 36661250
The diagnosis and management of femoro-acetabular impingement.
Macfarlane RJ, Haddad FS
Ann R Coll Surg Engl 2010 Jul;92(5):363-7. doi: 10.1308/003588410X12699663903791. PMID: 20626968Free PMC Article

Recent clinical studies

Etiology

Outcomes for Treatment of Capsulolabral Adhesions With a Capsular Spacer During Revision Hip Arthroscopy.
Ruzbarsky JJ, Comfort SM, Martin MD, Briggs KK, Philippon MJ
Am J Sports Med 2023 Feb;51(2):487-493. Epub 2023 Jan 20 doi: 10.1177/03635465221145704. PMID: 36661250
Partial arthroscopic trapeziectomy and stabilisation by ligamentoplasty: Outcomes in patients younger than 60years.
Abihssira S, Desmoineaux P, Delcourt T, Pujol N
Orthop Traumatol Surg Res 2021 Sep;107(5):102983. Epub 2021 Jun 8 doi: 10.1016/j.otsr.2021.102983. PMID: 34116236
Pain catastrophizing, anxiety, and depression in hip pathology.
Hampton SN, Nakonezny PA, Richard HM, Wells JE
Bone Joint J 2019 Jul;101-B(7):800-807. doi: 10.1302/0301-620X.101B7.BJJ-2018-1309.R1. PMID: 31256659
Radiotherapy for calcaneodynia, achillodynia, painful gonarthrosis, bursitis trochanterica, and painful shoulder syndrome - Early and late results of a prospective clinical quality assessment.
Micke O, Ugrak E, Bartmann S, Adamietz IA, Schaefer U, Bueker R, Kisters K, Heinrich Seegenschmiedt M, Fakhrian K, Muecke R
Radiat Oncol 2018 Apr 19;13(1):71. doi: 10.1186/s13014-018-1025-y. PMID: 29673383Free PMC Article
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.
Stock JL, Brown RS, Baron J, Coderre JA, Mancilla E, De Luca F, Ray K, Mericq MV
J Clin Endocrinol Metab 1999 Sep;84(9):3036-40. doi: 10.1210/jcem.84.9.5977. PMID: 10487661

Diagnosis

Treatment of Labral Calcification in the Setting of Femoroacetabular Impingement Syndrome With Arthroscopic Calcification Excision, Labral Repair, and Osteoplasty Improves Outcomes.
Soriano KKJ, Flores SE, Aung MS, Nguyen TQ, Zhang AL
Arthroscopy 2021 Feb;37(2):554-563. Epub 2020 Oct 26 doi: 10.1016/j.arthro.2020.10.033. PMID: 33122106
Development and evaluation of a minimally aggressive method of patellofemoral osteoarthritis surgical treatment.
Akilzhanov KR, Zhunusov ET, Asylkhanov KT, Smakov SB, Zhanaspayev MA
J Orthop Surg (Hong Kong) 2019 May-Aug;27(2):2309499019859441. doi: 10.1177/2309499019859441. PMID: 31284828
Pain catastrophizing, anxiety, and depression in hip pathology.
Hampton SN, Nakonezny PA, Richard HM, Wells JE
Bone Joint J 2019 Jul;101-B(7):800-807. doi: 10.1302/0301-620X.101B7.BJJ-2018-1309.R1. PMID: 31256659
The diagnosis and management of femoro-acetabular impingement.
Macfarlane RJ, Haddad FS
Ann R Coll Surg Engl 2010 Jul;92(5):363-7. doi: 10.1308/003588410X12699663903791. PMID: 20626968Free PMC Article
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Löppönen T, Körkkö J, Lundan T, Seppänen U, Ignatius J, Kääriäinen H
Arthritis Rheum 2004 Dec 15;51(6):925-32. doi: 10.1002/art.20817. PMID: 15593085

Therapy

Short-term improvement of patellofemoral pain in medial unicompartmental knee arthroplasty with patellar denervation: a prospective comparative study.
Suwankomonkul P, Arirachakaran A, Kongtharvonskul J
Musculoskelet Surg 2022 Mar;106(1):75-82. Epub 2020 Aug 2 doi: 10.1007/s12306-020-00675-7. PMID: 32743756
Arthroscopic treatment of elbow osteoarthritis.
Desmoineaux P, Carlier Y, Mansat P, Bleton R, Rouleau DM, Duparc F; French Arthroscopic Society
Orthop Traumatol Surg Res 2019 Dec;105(8S):S235-S240. Epub 2019 Sep 23 doi: 10.1016/j.otsr.2019.09.003. PMID: 31558411
Multicentre study on capsular closure versus non-capsular closure during hip arthroscopy in Danish patients with femoroacetabular impingement (FAI): protocol for a randomised controlled trial.
Dippmann C, Kraemer O, Lund B, Krogsgaard M, Hölmich P, Lind M, Briggs K, Philippon M, Mygind-Klavsen B
BMJ Open 2018 Feb 10;8(2):e019176. doi: 10.1136/bmjopen-2017-019176. PMID: 29440159Free PMC Article
Efficacy of stabilisation splint treatment on temporomandibular disorders.
Niemelä K, Korpela M, Raustia A, Ylöstalo P, Sipilä K
J Oral Rehabil 2012 Nov;39(11):799-804. Epub 2012 Jul 19 doi: 10.1111/j.1365-2842.2012.02335.x. PMID: 22809314
An outcome study of chronic patellofemoral pain syndrome. Seven-year follow-up of patients in a randomized, controlled trial.
Kannus P, Natri A, Paakkala T, Järvinen M
J Bone Joint Surg Am 1999 Mar;81(3):355-63. doi: 10.2106/00004623-199903000-00007. PMID: 10199273

Prognosis

Outcomes for Treatment of Capsulolabral Adhesions With a Capsular Spacer During Revision Hip Arthroscopy.
Ruzbarsky JJ, Comfort SM, Martin MD, Briggs KK, Philippon MJ
Am J Sports Med 2023 Feb;51(2):487-493. Epub 2023 Jan 20 doi: 10.1177/03635465221145704. PMID: 36661250
Treatment of Labral Calcification in the Setting of Femoroacetabular Impingement Syndrome With Arthroscopic Calcification Excision, Labral Repair, and Osteoplasty Improves Outcomes.
Soriano KKJ, Flores SE, Aung MS, Nguyen TQ, Zhang AL
Arthroscopy 2021 Feb;37(2):554-563. Epub 2020 Oct 26 doi: 10.1016/j.arthro.2020.10.033. PMID: 33122106
Isoelastic resurfacing prosthesis for distal radius fractures: Outcomes in 24 cases with at least 2 years' follow-up.
Martins A, Lazarus P, Facca S, Gouzou S, Meyer N, Liverneaux P
Orthop Traumatol Surg Res 2020 Dec;106(8):1613-1618. Epub 2020 Nov 12 doi: 10.1016/j.otsr.2020.07.005. PMID: 33189661
Pain catastrophizing, anxiety, and depression in hip pathology.
Hampton SN, Nakonezny PA, Richard HM, Wells JE
Bone Joint J 2019 Jul;101-B(7):800-807. doi: 10.1302/0301-620X.101B7.BJJ-2018-1309.R1. PMID: 31256659
Radiotherapy for calcaneodynia, achillodynia, painful gonarthrosis, bursitis trochanterica, and painful shoulder syndrome - Early and late results of a prospective clinical quality assessment.
Micke O, Ugrak E, Bartmann S, Adamietz IA, Schaefer U, Bueker R, Kisters K, Heinrich Seegenschmiedt M, Fakhrian K, Muecke R
Radiat Oncol 2018 Apr 19;13(1):71. doi: 10.1186/s13014-018-1025-y. PMID: 29673383Free PMC Article

Clinical prediction guides

Minced Cartilage Implantation in Acetabular Cartilage Defects: Case Series with 2-Year Results.
Gebhardt S, Hofer A, Wassilew GI, Sobau C, Zimmerer A
Cartilage 2023 Dec;14(4):393-399. Epub 2023 Aug 3 doi: 10.1177/19476035231189840. PMID: 37533396Free PMC Article
Outcomes for Treatment of Capsulolabral Adhesions With a Capsular Spacer During Revision Hip Arthroscopy.
Ruzbarsky JJ, Comfort SM, Martin MD, Briggs KK, Philippon MJ
Am J Sports Med 2023 Feb;51(2):487-493. Epub 2023 Jan 20 doi: 10.1177/03635465221145704. PMID: 36661250
Partial arthroscopic trapeziectomy and stabilisation by ligamentoplasty: Outcomes in patients younger than 60years.
Abihssira S, Desmoineaux P, Delcourt T, Pujol N
Orthop Traumatol Surg Res 2021 Sep;107(5):102983. Epub 2021 Jun 8 doi: 10.1016/j.otsr.2021.102983. PMID: 34116236
Pain catastrophizing, anxiety, and depression in hip pathology.
Hampton SN, Nakonezny PA, Richard HM, Wells JE
Bone Joint J 2019 Jul;101-B(7):800-807. doi: 10.1302/0301-620X.101B7.BJJ-2018-1309.R1. PMID: 31256659
Radiotherapy for calcaneodynia, achillodynia, painful gonarthrosis, bursitis trochanterica, and painful shoulder syndrome - Early and late results of a prospective clinical quality assessment.
Micke O, Ugrak E, Bartmann S, Adamietz IA, Schaefer U, Bueker R, Kisters K, Heinrich Seegenschmiedt M, Fakhrian K, Muecke R
Radiat Oncol 2018 Apr 19;13(1):71. doi: 10.1186/s13014-018-1025-y. PMID: 29673383Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...