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Limited elbow movement

MedGen UID:
337930
Concept ID:
C1849955
Finding
Synonyms: Limited elbow mobility; Limited movement of elbow; Restricted elbow motion
 
HPO: HP:0002996

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
Femoral hypoplasia - unusual facies syndrome
MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Leri-Weill dyschondrosteosis
MedGen UID:
75562
Concept ID:
C0265309
Disease or Syndrome
The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Peters plus syndrome
MedGen UID:
163204
Concept ID:
C0796012
Disease or Syndrome
Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.
3MC syndrome 2
MedGen UID:
167115
Concept ID:
C0796279
Disease or Syndrome
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).
Oculootoradial syndrome
MedGen UID:
233003
Concept ID:
C1327918
Disease or Syndrome
IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).
Congenital muscular hypertrophy-cerebral syndrome
MedGen UID:
315658
Concept ID:
C1802395
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Uruguay Faciocardiomusculoskeletal syndrome
MedGen UID:
335320
Concept ID:
C1846010
Disease or Syndrome
Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).
Ulna hypoplasia-intellectual disability syndrome
MedGen UID:
341275
Concept ID:
C1848650
Disease or Syndrome
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Cornelia de Lange syndrome 3
MedGen UID:
339902
Concept ID:
C1853099
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Spondyloepiphyseal dysplasia congenita
MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
Nestor-Guillermo progeria syndrome
MedGen UID:
462796
Concept ID:
C3151446
Disease or Syndrome
Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).
Distal arthrogryposis type 5D
MedGen UID:
767329
Concept ID:
C3554415
Disease or Syndrome
This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).
Frontometaphyseal dysplasia 1
MedGen UID:
923943
Concept ID:
C4281559
Congenital Abnormality
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Geleophysic dysplasia 3
MedGen UID:
1615724
Concept ID:
C4540511
Congenital Abnormality
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
LEOPARD syndrome 1
MedGen UID:
1631694
Concept ID:
C4551484
Disease or Syndrome
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.

Professional guidelines

PubMed

Pavlova AV, Shim JSC, Moss R, Maclean C, Brandie D, Mitchell L, Greig L, Parkinson E, Alexander L, Tzortziou Brown V, Morrissey D, Cooper K, Swinton PA
Br J Sports Med 2023 Oct;57(20):1327-1334. Epub 2023 May 11 doi: 10.1136/bjsports-2022-105754. PMID: 37169370Free PMC Article
Leafblad ND, Van Heest AE
J Hand Surg Am 2015 May;40(5):1035-40; quiz 1041. Epub 2015 Apr 1 doi: 10.1016/j.jhsa.2014.11.025. PMID: 25841769
Hoogvliet P, Randsdorp MS, Dingemanse R, Koes BW, Huisstede BM
Br J Sports Med 2013 Nov;47(17):1112-9. Epub 2013 May 24 doi: 10.1136/bjsports-2012-091990. PMID: 23709519

Recent clinical studies

Etiology

Pozzi F, Plummer HA, Shanley E, Thigpen CA, Bauer C, Wilson ML, Michener LA
Br J Sports Med 2020 Sep;54(17):1019-1027. Epub 2020 Jan 14 doi: 10.1136/bjsports-2019-100698. PMID: 31937577Free PMC Article
Basson A, Olivier B, Ellis R, Coppieters M, Stewart A, Mudzi W
J Orthop Sports Phys Ther 2017 Sep;47(9):593-615. Epub 2017 Jul 13 doi: 10.2519/jospt.2017.7117. PMID: 28704626
Wernbom M, Augustsson J, Thomeé R
Sports Med 2007;37(3):225-64. doi: 10.2165/00007256-200737030-00004. PMID: 17326698
Caine DJ, Nassar L
Med Sport Sci 2005;48:18-58. doi: 10.1159/000084282. PMID: 16247252
Bohannon RW, Smith MB
Phys Ther 1987 Feb;67(2):206-7. doi: 10.1093/ptj/67.2.206. PMID: 3809245

Diagnosis

Pozzi F, Plummer HA, Shanley E, Thigpen CA, Bauer C, Wilson ML, Michener LA
Br J Sports Med 2020 Sep;54(17):1019-1027. Epub 2020 Jan 14 doi: 10.1136/bjsports-2019-100698. PMID: 31937577Free PMC Article
Whelton C, Peach CA
Eur J Orthop Surg Traumatol 2018 Apr;28(3):363-371. Epub 2017 Nov 1 doi: 10.1007/s00590-017-2068-8. PMID: 29094212
Ajiboye AB, Willett FR, Young DR, Memberg WD, Murphy BA, Miller JP, Walter BL, Sweet JA, Hoyen HA, Keith MW, Peckham PH, Simeral JD, Donoghue JP, Hochberg LR, Kirsch RF
Lancet 2017 May 6;389(10081):1821-1830. Epub 2017 Mar 28 doi: 10.1016/S0140-6736(17)30601-3. PMID: 28363483Free PMC Article
Olaussen M, Holmedal Ø, Mdala I, Brage S, Lindbæk M
BMC Musculoskelet Disord 2015 May 20;16:122. doi: 10.1186/s12891-015-0582-6. PMID: 25989985Free PMC Article
Bohannon RW, Smith MB
Phys Ther 1987 Feb;67(2):206-7. doi: 10.1093/ptj/67.2.206. PMID: 3809245

Therapy

Pavlova AV, Shim JSC, Moss R, Maclean C, Brandie D, Mitchell L, Greig L, Parkinson E, Alexander L, Tzortziou Brown V, Morrissey D, Cooper K, Swinton PA
Br J Sports Med 2023 Oct;57(20):1327-1334. Epub 2023 May 11 doi: 10.1136/bjsports-2022-105754. PMID: 37169370Free PMC Article
Lin Y, Chen Y, Liu R, Cao B
Nurs Open 2023 Apr;10(4):2030-2043. Epub 2022 Nov 30 doi: 10.1002/nop2.1518. PMID: 36451034Free PMC Article
Birinci T, Kaya Mutlu E, Altun S
J Shoulder Elbow Surg 2022 Oct;31(10):2147-2156. Epub 2022 Jul 5 doi: 10.1016/j.jse.2022.05.031. PMID: 35803550
Basson A, Olivier B, Ellis R, Coppieters M, Stewart A, Mudzi W
J Orthop Sports Phys Ther 2017 Sep;47(9):593-615. Epub 2017 Jul 13 doi: 10.2519/jospt.2017.7117. PMID: 28704626
Hoogvliet P, Randsdorp MS, Dingemanse R, Koes BW, Huisstede BM
Br J Sports Med 2013 Nov;47(17):1112-9. Epub 2013 May 24 doi: 10.1136/bjsports-2012-091990. PMID: 23709519

Prognosis

Muhlestein WE, Chang KW, Justice D, Nelson VS, Brown SH, Saadeh YS, Smith BW
Neurosurgery 2024 Jan 1;94(1):193-201. Epub 2023 Oct 18 doi: 10.1227/neu.0000000000002726. PMID: 37850933
Ronchetti AB, Usai M, Savino V, Scaglione M, Tacchino CM, Bertamino M, Moretti P, Di Rocco M
Orphanet J Rare Dis 2023 Dec 20;18(1):392. doi: 10.1186/s13023-023-02976-z. PMID: 38124110Free PMC Article
Leone F, Gentile C, Cordella F, Gruppioni E, Guglielmelli E, Zollo L
J Neuroeng Rehabil 2022 Jan 28;19(1):10. doi: 10.1186/s12984-022-00982-z. PMID: 35090512Free PMC Article
Bousfield K, Cheon JY, Harley S, Lampiris-Tremba A, Loseby J, Bianchi N, Barnes A, Escorpizo R
J Occup Rehabil 2022 Sep;32(3):380-413. Epub 2021 Jul 26 doi: 10.1007/s10926-021-09997-0. PMID: 34309763
Bergin MJ, Hirata R, Mista C, Christensen SW, Tucker K, Vicenzino B, Hodges P, Graven-Nielsen T
Pain Med 2015 Nov;16(11):2180-91. Epub 2015 Jul 14 doi: 10.1111/pme.12824. PMID: 26178748

Clinical prediction guides

Srikumaran U, Russo R, Familiari F
Arthroscopy 2023 Mar;39(3):576-577. doi: 10.1016/j.arthro.2022.11.011. PMID: 36740282
Birinci T, Kaya Mutlu E, Altun S
J Shoulder Elbow Surg 2022 Oct;31(10):2147-2156. Epub 2022 Jul 5 doi: 10.1016/j.jse.2022.05.031. PMID: 35803550
Pozzi F, Plummer HA, Shanley E, Thigpen CA, Bauer C, Wilson ML, Michener LA
Br J Sports Med 2020 Sep;54(17):1019-1027. Epub 2020 Jan 14 doi: 10.1136/bjsports-2019-100698. PMID: 31937577Free PMC Article
Hawkins RJ, Thigpen CA
J Shoulder Elbow Surg 2018 Feb;27(2):357-362. Epub 2017 Dec 13 doi: 10.1016/j.jse.2017.09.022. PMID: 29248258
Buchbinder R, Green SE, Struijs P
BMJ Clin Evid 2008 May 28;2008 PMID: 19450309Free PMC Article

Recent systematic reviews

Pavlova AV, Shim JSC, Moss R, Maclean C, Brandie D, Mitchell L, Greig L, Parkinson E, Alexander L, Tzortziou Brown V, Morrissey D, Cooper K, Swinton PA
Br J Sports Med 2023 Oct;57(20):1327-1334. Epub 2023 May 11 doi: 10.1136/bjsports-2022-105754. PMID: 37169370Free PMC Article
Lin Y, Chen Y, Liu R, Cao B
Nurs Open 2023 Apr;10(4):2030-2043. Epub 2022 Nov 30 doi: 10.1002/nop2.1518. PMID: 36451034Free PMC Article
Pozzi F, Plummer HA, Shanley E, Thigpen CA, Bauer C, Wilson ML, Michener LA
Br J Sports Med 2020 Sep;54(17):1019-1027. Epub 2020 Jan 14 doi: 10.1136/bjsports-2019-100698. PMID: 31937577Free PMC Article
Basson A, Olivier B, Ellis R, Coppieters M, Stewart A, Mudzi W
J Orthop Sports Phys Ther 2017 Sep;47(9):593-615. Epub 2017 Jul 13 doi: 10.2519/jospt.2017.7117. PMID: 28704626
Hoogvliet P, Randsdorp MS, Dingemanse R, Koes BW, Huisstede BM
Br J Sports Med 2013 Nov;47(17):1112-9. Epub 2013 May 24 doi: 10.1136/bjsports-2012-091990. PMID: 23709519

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