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Cervical kyphosis

MedGen UID:
107898
Concept ID:
C0575170
Finding
Synonyms: Kyphosis deformity of cervical spine; Rounded neck
SNOMED CT: Kyphosis deformity of cervical spine (298393001); Cervical kyphosis (298393001)
 
HPO: HP:0002947

Definition

Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. [from HPO]

Conditions with this feature

Larsen syndrome
MedGen UID:
104500
Concept ID:
C0175778
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Atelosteogenesis type II
MedGen UID:
338072
Concept ID:
C1850554
Disease or Syndrome
Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with diastrophic dysplasia, and long-term survivors have been reported.
Camptomelic dysplasia
MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.
Atelosteogenesis type III
MedGen UID:
777149
Concept ID:
C3668942
Congenital Abnormality
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Spondylocostal dysostosis 6, autosomal recessive
MedGen UID:
899713
Concept ID:
C4225279
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Joint laxity, short stature, and myopia
MedGen UID:
1621331
Concept ID:
C4540020
Disease or Syndrome
A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss.
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.\n\nMyotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).\n\nChondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.\n\nResearchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.

Professional guidelines

PubMed

Miyamoto H, Ikeda T, Akagi M
Eur Spine J 2023 Oct;32(10):3505-3510. Epub 2023 Aug 19 doi: 10.1007/s00586-023-07890-3. PMID: 37597042
Yokota K, Maeda T, Kawano O, Mori E, Takao T, Sakai H, Masuda M, Morishita Y, Hayashi T, Kubota K, Nakashima Y
J Orthop Surg Res 2019 Apr 11;14(1):98. doi: 10.1186/s13018-019-1115-z. PMID: 30971275Free PMC Article
He Z, Liu Y, Xue F, Xiao H, Yuan W, Chen D
Orthopedics 2012 Sep;35(9):e1396-401. doi: 10.3928/01477447-20120822-28. PMID: 22955408

Recent clinical studies

Etiology

Takahashi M, Iwamoto K, Tomita K, Igawa T, Miyauchi Y
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J Spinal Disord Tech 2015 Aug;28(7):E385-93. doi: 10.1097/BSD.0b013e318299953f. PMID: 23732179
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Diagnosis

Campbell JW
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Ludwig K, Seiltgens C, Ibba A, Saran N, Ouellet JA, Glorieux F, Rauch F
Osteoporos Int 2022 Jan;33(1):177-183. Epub 2021 Aug 5 doi: 10.1007/s00198-021-06088-x. PMID: 34350492
Machino M, Ando K, Kobayashi K, Morozumi M, Tanaka S, Kanbara S, Ito S, Inoue T, Ito K, Kato F, Ishiguro N, Imagama S
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Tolo VT
Instr Course Lect 1990;39:399-405. PMID: 2186130

Therapy

Seo J, Suk KS, Kwon JW, Kim N, Lee BH, Moon SH, Kim HS, Lee HM
Spine J 2022 Aug;22(8):1271-1280. Epub 2022 Apr 3 doi: 10.1016/j.spinee.2022.03.017. PMID: 35385788
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Neurosurgery 2017 Dec 1;81(6):893-898. doi: 10.1093/neuros/nyx477. PMID: 29096033
Yiannakopoulou E
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Han K, Lu C, Li J, Xiong GZ, Wang B, Lv GH, Deng YW
Eur Spine J 2011 Apr;20(4):523-36. Epub 2010 Oct 22 doi: 10.1007/s00586-010-1602-8. PMID: 20967471Free PMC Article

Prognosis

Jeon H, Kim HC, Kim TW, An SB, Shin DA, Yi S, Kim KN, Yoon DH, Borkar SA, Son DW, Ha Y
J Clin Neurosci 2021 Mar;85:13-19. Epub 2021 Jan 7 doi: 10.1016/j.jocn.2020.12.002. PMID: 33581783
Paholpak P, Vega A, Formanek B, Tamai K, Wang JC, Buser Z
Eur Spine J 2021 Feb;30(2):444-453. Epub 2020 Aug 7 doi: 10.1007/s00586-020-06559-5. PMID: 32770266
Machino M, Ando K, Kobayashi K, Morozumi M, Tanaka S, Kanbara S, Ito S, Inoue T, Ito K, Kato F, Ishiguro N, Imagama S
Spine (Phila Pa 1976) 2020 May 15;45(10):641-648. doi: 10.1097/BRS.0000000000003345. PMID: 32358304
Tang Y, Xu X, Zhu F, Chen C, Wang F, Lu M, Huang X
World Neurosurg 2019 Jul;127:e788-e792. Epub 2019 Apr 3 doi: 10.1016/j.wneu.2019.03.264. PMID: 30951919
Lin MS, Kung WM, Chiu WT, Lyu RK, Chen CJ, Chen TY
J Neurosurg Spine 2010 Jun;12(6):629-34. doi: 10.3171/2009.12.SPINE09431. PMID: 20515348

Clinical prediction guides

Seo J, Suk KS, Kwon JW, Kim N, Lee BH, Moon SH, Kim HS, Lee HM
Spine J 2022 Aug;22(8):1271-1280. Epub 2022 Apr 3 doi: 10.1016/j.spinee.2022.03.017. PMID: 35385788
Wu B, Liu B, Sang D, Cui W, Wang D
Eur Spine J 2021 Jun;30(6):1501-1508. Epub 2021 Feb 27 doi: 10.1007/s00586-021-06771-x. PMID: 33640994
Jeon H, Kim HC, Kim TW, An SB, Shin DA, Yi S, Kim KN, Yoon DH, Borkar SA, Son DW, Ha Y
J Clin Neurosci 2021 Mar;85:13-19. Epub 2021 Jan 7 doi: 10.1016/j.jocn.2020.12.002. PMID: 33581783
Grosso MJ, Hwang R, Krishnaney AA, Mroz TE, Benzel EC, Steinmetz MP
J Spinal Disord Tech 2015 Aug;28(7):E385-93. doi: 10.1097/BSD.0b013e318299953f. PMID: 23732179
Ames CP, Blondel B, Scheer JK, Schwab FJ, Le Huec JC, Massicotte EM, Patel AA, Traynelis VC, Kim HJ, Shaffrey CI, Smith JS, Lafage V
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Recent systematic reviews

Noh SH, Takahashi T, Inoue T, Park SM, Hanakita J, Minami M, Kanematsu R, Shimauchi-Ohtaki H, Ha Y
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Eur Spine J 2013 Jul;22(7):1583-93. Epub 2013 May 9 doi: 10.1007/s00586-013-2817-2. PMID: 23657624Free PMC Article

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