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Lumbar kyphosis

MedGen UID:
336792
Concept ID:
C1844818
Finding
Synonym: Lumbar gibbus deformity
 
HPO: HP:0008454

Definition

Over curvature of the lumbar region. [from HPO]

Conditions with this feature

Mucopolysaccharidosis, MPS-IV-A
MedGen UID:
43375
Concept ID:
C0086651
Disease or Syndrome
The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly. Compression of the spinal cord is a common complication that results in neurologic impairment. Children with MPS IVA have normal intellectual abilities at the outset of the disease.
Coffin-Lowry syndrome
MedGen UID:
75556
Concept ID:
C0265252
Disease or Syndrome
Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep apnea, or stroke. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. Upper-extremity differences may be subtle and include short, soft, fleshy hands with tapered fingers as well as fleshy forearms. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Affected females tend to have intellectual disability in the mild-to-moderate range and may also have the typical facial, hand, and skeletal findings noted in males.
Vertebral hypoplasia with lumbar kyphosis
MedGen UID:
348622
Concept ID:
C1860463
Disease or Syndrome
Imerslund-Grasbeck syndrome type 2
MedGen UID:
865385
Concept ID:
C4016948
Disease or Syndrome
Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN (602997) complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; 609342). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; 600073), which is important for the reabsorption of plasma proteins (summary by Grasbeck, 2006, De Filippo et al., 2013, and Storm et al., 2013). For a discussion of genetic heterogeneity of Imerslund-Grasbeck syndrome, see 261100.
Short stature, oligodontia, dysmorphic facies, and motor delay
MedGen UID:
1787876
Concept ID:
C5543206
Disease or Syndrome
SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020).
Atelis syndrome 1
MedGen UID:
1824054
Concept ID:
C5774281
Disease or Syndrome
Atelis syndrome-1 (ATELS1) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Most patients have anemia, some have immunologic defects, and some have congenital heart septal defects. More variable features may include hypotonia, dysmorphic facial features, skin pigmentary anomalies, and mild skeletal defects. Patient cells show multiple chromosomal abnormalities due to impaired DNA replication and disrupted mitosis (Grange et al., 2022). See also ATELS2 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21. For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).

Professional guidelines

PubMed

Guy A, Aubin CÉ
J Orthop Res 2023 Sep;41(9):2065-2074. Epub 2023 Mar 24 doi: 10.1002/jor.25553. PMID: 36922351
Gao R, Bai Y, Zhang X, Cao J, Guo D, Yao Z, Liu H
J Pediatr Orthop 2023 Mar 1;43(3):e223-e229. Epub 2022 Dec 13 doi: 10.1097/BPO.0000000000002319. PMID: 36510674
Kusakabe T, Endo K, Sawaji Y, Suzuki H, Nishimura H, Matsuoka Y, Murata K, Takamatsu T, Maekawa A, Aihara T, Yamamoto K
J Orthop Surg (Hong Kong) 2020 Jan-Apr;28(2):2309499020938882. doi: 10.1177/2309499020938882. PMID: 32638646

Recent clinical studies

Etiology

Taniguchi M, Ikezoe T, Masaki M, Kamitani T, Tsuboyama T, Ito H, Matsuda S, Tabara Y, Matsuda F, Ichihashi N; Nagahama Study Group
Arthritis Care Res (Hoboken) 2022 Oct;74(10):1667-1675. Epub 2022 Jun 28 doi: 10.1002/acr.24580. PMID: 33606899
Shin SS, Yoo WG
J Back Musculoskelet Rehabil 2021;34(5):877-885. doi: 10.3233/BMR-200087. PMID: 34057131
Imagama S, Ando K, Kobayashi K, Machino M, Tanaka S, Morozumi M, Kanbara S, Ito S, Seki T, Hamada T, Ishizuka S, Nakashima H, Ishiguro N, Hasegawa Y
Eur Spine J 2019 Nov;28(11):2619-2628. Epub 2019 Sep 10 doi: 10.1007/s00586-019-06139-2. PMID: 31506765
Zileli M
Adv Tech Stand Neurosurg 2014;41:71-103. doi: 10.1007/978-3-319-01830-0_4. PMID: 24309921
Roussouly P, Pinheiro-Franco JL
Eur Spine J 2011 Sep;20 Suppl 5(Suppl 5):609-18. Epub 2011 Aug 2 doi: 10.1007/s00586-011-1928-x. PMID: 21809016Free PMC Article

Diagnosis

Taniguchi M, Ikezoe T, Masaki M, Kamitani T, Tsuboyama T, Ito H, Matsuda S, Tabara Y, Matsuda F, Ichihashi N; Nagahama Study Group
Arthritis Care Res (Hoboken) 2022 Oct;74(10):1667-1675. Epub 2022 Jun 28 doi: 10.1002/acr.24580. PMID: 33606899
Imagama S, Ando K, Kobayashi K, Machino M, Tanaka S, Morozumi M, Kanbara S, Ito S, Seki T, Hamada T, Ishizuka S, Nakashima H, Ishiguro N, Hasegawa Y
Eur Spine J 2019 Nov;28(11):2619-2628. Epub 2019 Sep 10 doi: 10.1007/s00586-019-06139-2. PMID: 31506765
Barrey C, Roussouly P, Perrin G, Le Huec JC
Eur Spine J 2011 Sep;20 Suppl 5(Suppl 5):626-33. Epub 2011 Jul 28 doi: 10.1007/s00586-011-1930-3. PMID: 21796393Free PMC Article
Finsterer J, Strobl W
Disabil Rehabil 2011;33(17-18):1702-3. Epub 2010 Dec 23 doi: 10.3109/09638288.2010.543750. PMID: 21182366
Darmstadt GL, Lane AT
Pediatr Dermatol 1994 Sep;11(3):222-6. doi: 10.1111/j.1525-1470.1994.tb00590.x. PMID: 7971556

Therapy

Xu T, Fang Z, Qiao P, Geng Y, Shao R, Zhang L, Tian R
Altern Ther Health Med 2023 Nov;29(8):134-138. PMID: 37535919
Li Y, Qian BP, Qiu Y, Zhao SZ, Zhong XL, Wang B
J Neurosurg Spine 2022 Apr 1;36(4):624-631. Epub 2021 Oct 29 doi: 10.3171/2021.7.SPINE21114. PMID: 34715648
Anwer S, Alghadir A, Abu Shaphe M, Anwar D
Biomed Res Int 2015;2015:123848. Epub 2015 Oct 25 doi: 10.1155/2015/123848. PMID: 26583083Free PMC Article
Samagh SP, Cheng I, Elzik M, Kondrashov DG, Rinsky LA
Spine J 2011 Mar;11(3):e5-11. doi: 10.1016/j.spinee.2011.01.020. PMID: 21377598
Kwon BK, Elgafy H, Keynan O, Fisher CG, Boyd MC, Paquette SJ, Dvorak MF
Spine (Phila Pa 1976) 2006 Aug 1;31(17):1943-51. doi: 10.1097/01.brs.0000229258.83071.db. PMID: 16924211

Prognosis

Cheng J, Zhang S, Sheng W
BMC Musculoskelet Disord 2022 Dec 9;23(1):1076. doi: 10.1186/s12891-022-06043-9. PMID: 36482380Free PMC Article
Liu ZJ, Qian BP, Qiu Y, Mao SH, Jiang J, Wang B
J Neurosurg Spine 2019 Mar 15;31(1):27-34. doi: 10.3171/2018.12.SPINE18752. PMID: 30875683
Vibert B, Turati M, Rabattu PY, Bigoni M, Eid A, Courvoisier A
Childs Nerv Syst 2018 Apr;34(4):771-775. Epub 2017 Sep 16 doi: 10.1007/s00381-017-3598-4. PMID: 28918465
Scemama C, Laouissat F, Abelin-Genevois K, Roussouly P
Eur Spine J 2017 Aug;26(8):2146-2152. Epub 2017 Feb 8 doi: 10.1007/s00586-017-4984-z. PMID: 28180982
Hsieh MK, Chen LH, Niu CC, Fu TS, Lai PL, Chen WJ
BMC Surg 2015 Mar 15;15:26. doi: 10.1186/s12893-015-0006-4. PMID: 25887274Free PMC Article

Clinical prediction guides

Amarasinghe P, Wadugodapitiya S, Weerasekara I
Syst Rev 2023 Mar 2;12(1):28. doi: 10.1186/s13643-022-02164-3. PMID: 36864486Free PMC Article
Li Y, Qian BP, Qiu Y, Zhao SZ, Zhong XL, Wang B
J Neurosurg Spine 2022 Apr 1;36(4):624-631. Epub 2021 Oct 29 doi: 10.3171/2021.7.SPINE21114. PMID: 34715648
Taniguchi M, Ikezoe T, Masaki M, Kamitani T, Tsuboyama T, Ito H, Matsuda S, Tabara Y, Matsuda F, Ichihashi N; Nagahama Study Group
Arthritis Care Res (Hoboken) 2022 Oct;74(10):1667-1675. Epub 2022 Jun 28 doi: 10.1002/acr.24580. PMID: 33606899
Huet T, Cohen-Solal M, Laredo JD, Collet C, Baujat G, Cormier-Daire V, Yelnik A, Orcel P, Beaudreuil J
Sci Rep 2020 Mar 13;10(1):4699. doi: 10.1038/s41598-020-61704-w. PMID: 32170149Free PMC Article
Imagama S, Ando K, Kobayashi K, Machino M, Tanaka S, Morozumi M, Kanbara S, Ito S, Seki T, Hamada T, Ishizuka S, Nakashima H, Ishiguro N, Hasegawa Y
Eur Spine J 2019 Nov;28(11):2619-2628. Epub 2019 Sep 10 doi: 10.1007/s00586-019-06139-2. PMID: 31506765

Recent systematic reviews

Amarasinghe P, Wadugodapitiya S, Weerasekara I
Syst Rev 2023 Mar 2;12(1):28. doi: 10.1186/s13643-022-02164-3. PMID: 36864486Free PMC Article
Antequera-Vique JA, Oliva-Lozano JM, Muyor JM
Sports Biomech 2023 Apr;22(4):567-596. Epub 2022 Apr 19 doi: 10.1080/14763141.2022.2058990. PMID: 35440291
Anwer S, Alghadir A, Abu Shaphe M, Anwar D
Biomed Res Int 2015;2015:123848. Epub 2015 Oct 25 doi: 10.1155/2015/123848. PMID: 26583083Free PMC Article
Kemp AM, Joshi AH, Mann M, Tempest V, Liu A, Holden S, Maguire S
Arch Dis Child 2010 May;95(5):355-60. Epub 2009 Nov 27 doi: 10.1136/adc.2009.169110. PMID: 19946011

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