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Lower limb asymmetry

MedGen UID:
44089
Concept ID:
C0023221
Finding; Finding
Synonyms: Inequalities, Leg Length; Inequality, Leg Length; Leg Length Inequalities; Leg Length Inequality; Length Inequalities, Leg; Length Inequality, Leg
SNOMED CT: Lower limb length difference (45939007); Leg length inequality (45939007)
 
HPO: HP:0100559

Definition

A difference in length or diameter between the left and right leg. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Lower limb asymmetry

Conditions with this feature

Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome (BOS) is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Toriello-Lacassie-Droste syndrome
MedGen UID:
333068
Concept ID:
C1838329
Disease or Syndrome
Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).
CLOVES syndrome
MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
MedGen UID:
816736
Concept ID:
C3810406
Mental or Behavioral Dysfunction
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Intellectual disability, X-linked 99, syndromic, female-restricted
MedGen UID:
899839
Concept ID:
C4225416
Disease or Syndrome
Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).
Noonan syndrome 13
MedGen UID:
1761918
Concept ID:
C5436773
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.

Professional guidelines

PubMed

Rizzo V, Traggiai C, Stanhope R
Horm Res 2001;56(3-4):114-6. doi: 10.1159/000048102. PMID: 11847473

Recent clinical studies

Etiology

Mesfar A, Hammami R, Selmi W, Gaied-Chortane S, Duncan M, Bowman TG, Nobari H, van den Tillaar R
Int J Environ Res Public Health 2022 May 27;19(11) doi: 10.3390/ijerph19116547. PMID: 35682140Free PMC Article
D'Hondt J, Chapelle L, Droogenbroeck LV, Aerenhouts D, Clarys P, D'Hondt E
Eur J Sport Sci 2022 Sep;22(9):1343-1354. Epub 2021 Aug 17 doi: 10.1080/17461391.2021.1960624. PMID: 34296664
Helme M, Tee J, Emmonds S, Low C
Phys Ther Sport 2021 May;49:204-213. Epub 2021 Mar 8 doi: 10.1016/j.ptsp.2021.03.001. PMID: 33770741
Cao YQ, Dong LX, Cao J
Chin Med J (Engl) 2018 Jul 20;131(14):1732-1737. doi: 10.4103/0366-6999.235865. PMID: 29998894Free PMC Article
Yen SC, Olsavsky LC, Cloonan CM, Llanos AR, Dwyer KJ, Nabian M, Farjadian AB
Hum Mov Sci 2018 Feb;57:40-49. Epub 2017 Nov 12 doi: 10.1016/j.humov.2017.11.004. PMID: 29136539

Diagnosis

Buser A, Lindhurst MJ, Kondolf HC, Yourick MR, Keppler-Noreuil KM, Sapp JC, Biesecker LG
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005181. PMID: 32327430Free PMC Article
Sabet S, Letafatkar A, Eftekhari F, Khosrokiani Z, Gokeler A
Phys Ther Sport 2019 Jul;38:71-79. Epub 2019 Apr 24 doi: 10.1016/j.ptsp.2019.04.014. PMID: 31055061
Amaral J, Peixoto S, Mimoso G, Pereira D
BMJ Case Rep 2018 Jan 12;2018 doi: 10.1136/bcr-2017-222269. PMID: 29330270Free PMC Article
Loturco I, Pereira LA, Kobal R, Abad CCC, Komatsu W, Cunha R, Arliani G, Ejnisman B, Pochini AC, Nakamura FY, Cohen M
Int J Sports Med 2018 Feb;39(3):189-197. Epub 2017 Dec 28 doi: 10.1055/s-0043-122738. PMID: 29284166
Akpinar EE, Hoşgün D, Akpinar S, Ataç GK, Doğanay B, Gülhan M
J Bras Pneumol 2014 Jan-Feb;40(1):38-45. doi: 10.1590/S1806-37132014000100006. PMID: 24626268Free PMC Article

Therapy

Cofré-Fernández V, Burgos-Estrada N, Meneses-Hermosilla V, Ramirez-Campillo R, Keogh JW, Gajardo-Burgos R
Res Sports Med 2023 Mar-Apr;31(2):90-100. Epub 2021 Jun 29 doi: 10.1080/15438627.2021.1943388. PMID: 34182833
Mesfar A, Hammami R, Selmi W, Gaied-Chortane S, Duncan M, Bowman TG, Nobari H, van den Tillaar R
Int J Environ Res Public Health 2022 May 27;19(11) doi: 10.3390/ijerph19116547. PMID: 35682140Free PMC Article
Hammami R, Duncan MJ, Nebigh A, Werfelli H, Rebai H
J Strength Cond Res 2022 Apr 1;36(4):955-962. doi: 10.1519/JSC.0000000000003598. PMID: 32483061
Hughes G, Musco P, Caine S, Howe L
J Athl Train 2020 Aug 1;55(8):811-825. doi: 10.4085/1062-6050-0244-19. PMID: 32607546Free PMC Article
Rizzo V, Traggiai C, Stanhope R
Horm Res 2001;56(3-4):114-6. doi: 10.1159/000048102. PMID: 11847473

Prognosis

Mesfar A, Hammami R, Selmi W, Gaied-Chortane S, Duncan M, Bowman TG, Nobari H, van den Tillaar R
Int J Environ Res Public Health 2022 May 27;19(11) doi: 10.3390/ijerph19116547. PMID: 35682140Free PMC Article
Cleland BT, Gelting T, Arand B, Struhar J, Schindler-Ivens S
Clin Neurophysiol 2019 Sep;130(9):1474-1487. Epub 2019 Jun 21 doi: 10.1016/j.clinph.2019.05.025. PMID: 31288158Free PMC Article
Cao YQ, Dong LX, Cao J
Chin Med J (Engl) 2018 Jul 20;131(14):1732-1737. doi: 10.4103/0366-6999.235865. PMID: 29998894Free PMC Article
Amaral J, Peixoto S, Mimoso G, Pereira D
BMJ Case Rep 2018 Jan 12;2018 doi: 10.1136/bcr-2017-222269. PMID: 29330270Free PMC Article
Loturco I, Pereira LA, Kobal R, Abad CCC, Komatsu W, Cunha R, Arliani G, Ejnisman B, Pochini AC, Nakamura FY, Cohen M
Int J Sports Med 2018 Feb;39(3):189-197. Epub 2017 Dec 28 doi: 10.1055/s-0043-122738. PMID: 29284166

Clinical prediction guides

D'Hondt J, Chapelle L, Droogenbroeck LV, Aerenhouts D, Clarys P, D'Hondt E
Eur J Sport Sci 2022 Sep;22(9):1343-1354. Epub 2021 Aug 17 doi: 10.1080/17461391.2021.1960624. PMID: 34296664
Helme M, Tee J, Emmonds S, Low C
Phys Ther Sport 2021 May;49:204-213. Epub 2021 Mar 8 doi: 10.1016/j.ptsp.2021.03.001. PMID: 33770741
Cleland BT, Gelting T, Arand B, Struhar J, Schindler-Ivens S
Clin Neurophysiol 2019 Sep;130(9):1474-1487. Epub 2019 Jun 21 doi: 10.1016/j.clinph.2019.05.025. PMID: 31288158Free PMC Article
Cao YQ, Dong LX, Cao J
Chin Med J (Engl) 2018 Jul 20;131(14):1732-1737. doi: 10.4103/0366-6999.235865. PMID: 29998894Free PMC Article
Yen SC, Olsavsky LC, Cloonan CM, Llanos AR, Dwyer KJ, Nabian M, Farjadian AB
Hum Mov Sci 2018 Feb;57:40-49. Epub 2017 Nov 12 doi: 10.1016/j.humov.2017.11.004. PMID: 29136539

Recent systematic reviews

Fu X, Zhong Y, Xu W, Ju J, Yu M, Ge M, Gu X, Chen Q, Sun Y, Huang H, Shen L
PLoS One 2021;16(9):e0256480. Epub 2021 Sep 2 doi: 10.1371/journal.pone.0256480. PMID: 34473738Free PMC Article
Helme M, Tee J, Emmonds S, Low C
Phys Ther Sport 2021 May;49:204-213. Epub 2021 Mar 8 doi: 10.1016/j.ptsp.2021.03.001. PMID: 33770741
Hughes G, Musco P, Caine S, Howe L
J Athl Train 2020 Aug 1;55(8):811-825. doi: 10.4085/1062-6050-0244-19. PMID: 32607546Free PMC Article

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