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Elbow ankylosis

MedGen UID:
592439
Concept ID:
C0409477
Disease or Syndrome
Synonyms: Ankylosis of the elbow joint; Elbow joint ankylosis
SNOMED CT: Ankylosis of the elbow joint (202307002); Elbow joint ankylosis (202307002)
 
HPO: HP:0003070

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElbow ankylosis

Conditions with this feature

Pfeiffer syndrome
MedGen UID:
67390
Concept ID:
C0220658
Disease or Syndrome
Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.
Cloverleaf skull syndrome
MedGen UID:
98141
Concept ID:
C0432126
Disease or Syndrome
Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes.
Fetal akinesia deformation sequence 1
MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
Schinzel phocomelia syndrome
MedGen UID:
336388
Concept ID:
C1848651
Disease or Syndrome
The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).

Professional guidelines

PubMed

Evans PJ, Nandi S, Maschke S, Hoyen HA, Lawton JN
J Hand Surg Am 2009 Apr;34(4):769-78. doi: 10.1016/j.jhsa.2009.02.020. PMID: 19345886
Peden JP, Morrey BF
J Bone Joint Surg Br 2008 Sep;90(9):1198-204. doi: 10.1302/0301-620X.90B9.19967. PMID: 18757960
Cohen MM Jr
Am J Med Genet 1993 Feb 1;45(3):300-7. doi: 10.1002/ajmg.1320450305. PMID: 8434615

Recent clinical studies

Etiology

Chen S, Liu J, Cai J, Zheng W, Li Z, Chen W, Fan C
Int Orthop 2017 Aug;41(8):1627-1632. Epub 2017 Jan 12 doi: 10.1007/s00264-016-3395-9. PMID: 28083670
Kruppa C, Königshausen M, Schildhauer TA, Dudda M
Injury 2015 Oct;46 Suppl 4:S10-6. doi: 10.1016/S0020-1383(15)30013-9. PMID: 26542853
Erşen A, Demirhan M, Atalar AC, Salduz A, Tunalı O
Acta Orthop Traumatol Turc 2014;48(5):558-62. doi: 10.3944/AOTT.2014.14.0131. PMID: 25429583
Salazar D, Golz A, Israel H, Marra G
Clin Orthop Relat Res 2014 Jul;472(7):2269-75. Epub 2014 Apr 8 doi: 10.1007/s11999-014-3591-0. PMID: 24711127Free PMC Article

Diagnosis

Salazar D, Golz A, Israel H, Marra G
Clin Orthop Relat Res 2014 Jul;472(7):2269-75. Epub 2014 Apr 8 doi: 10.1007/s11999-014-3591-0. PMID: 24711127Free PMC Article
Koga H, Suga N, Nakamoto T, Tanaka K, Takahashi N
Am J Med Genet A 2012 Oct;158A(10):2506-10. Epub 2012 Sep 10 doi: 10.1002/ajmg.a.35590. PMID: 22965899
Vogels A, Fryns JP
Orphanet J Rare Dis 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. PMID: 16740155Free PMC Article
Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN
Am J Med Genet 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k. PMID: 9605588

Therapy

Salazar D, Golz A, Israel H, Marra G
Clin Orthop Relat Res 2014 Jul;472(7):2269-75. Epub 2014 Apr 8 doi: 10.1007/s11999-014-3591-0. PMID: 24711127Free PMC Article

Prognosis

Chen S, Liu J, Cai J, Zheng W, Li Z, Chen W, Fan C
Int Orthop 2017 Aug;41(8):1627-1632. Epub 2017 Jan 12 doi: 10.1007/s00264-016-3395-9. PMID: 28083670
Kruppa C, Königshausen M, Schildhauer TA, Dudda M
Injury 2015 Oct;46 Suppl 4:S10-6. doi: 10.1016/S0020-1383(15)30013-9. PMID: 26542853
Erşen A, Demirhan M, Atalar AC, Salduz A, Tunalı O
Acta Orthop Traumatol Turc 2014;48(5):558-62. doi: 10.3944/AOTT.2014.14.0131. PMID: 25429583
Salazar D, Golz A, Israel H, Marra G
Clin Orthop Relat Res 2014 Jul;472(7):2269-75. Epub 2014 Apr 8 doi: 10.1007/s11999-014-3591-0. PMID: 24711127Free PMC Article
Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN
Am J Med Genet 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k. PMID: 9605588

Clinical prediction guides

Chen S, Liu J, Cai J, Zheng W, Li Z, Chen W, Fan C
Int Orthop 2017 Aug;41(8):1627-1632. Epub 2017 Jan 12 doi: 10.1007/s00264-016-3395-9. PMID: 28083670
Erşen A, Demirhan M, Atalar AC, Salduz A, Tunalı O
Acta Orthop Traumatol Turc 2014;48(5):558-62. doi: 10.3944/AOTT.2014.14.0131. PMID: 25429583
Salazar D, Golz A, Israel H, Marra G
Clin Orthop Relat Res 2014 Jul;472(7):2269-75. Epub 2014 Apr 8 doi: 10.1007/s11999-014-3591-0. PMID: 24711127Free PMC Article
Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN
Am J Med Genet 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k. PMID: 9605588

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