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Thoracic kyphosis

MedGen UID:
263148
Concept ID:
C1184919
Anatomical Abnormality; Finding; Finding
Synonyms: Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis
 
HPO: HP:0002942

Definition

Over curvature of the thoracic region, leading to a round back or if sever to a hump. [from HPO]

Conditions with this feature

Sjögren-Larsson syndrome
MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).
KBG syndrome
MedGen UID:
66317
Concept ID:
C0220687
Disease or Syndrome
KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.
Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).
Dyggve-Melchior-Clausen syndrome
MedGen UID:
120527
Concept ID:
C0265286
Disease or Syndrome
Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).
Schimke immuno-osseous dysplasia
MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type
MedGen UID:
373126
Concept ID:
C1836584
Disease or Syndrome
Spondyloepiphyseal dysplasia with metatarsal shortening
MedGen UID:
324580
Concept ID:
C1836683
Congenital Abnormality
Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).
King Denborough syndrome
MedGen UID:
327082
Concept ID:
C1840365
Disease or Syndrome
King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by Dowling et al., 2011).
Syndromic X-linked intellectual disability Siderius type
MedGen UID:
337375
Concept ID:
C1846055
Disease or Syndrome
Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate (summary by Koivisto et al., 2007).
Spondyloepimetaphyseal dysplasia, Bieganski type
MedGen UID:
335350
Concept ID:
C1846148
Disease or Syndrome
X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).
Kahrizi syndrome
MedGen UID:
382543
Concept ID:
C2675185
Disease or Syndrome
Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features.
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
MedGen UID:
412914
Concept ID:
C2750234
Disease or Syndrome
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and intellectual disability (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Myofibrillar myopathy 7
MedGen UID:
934678
Concept ID:
C4310711
Disease or Syndrome
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Anauxetic dysplasia 1
MedGen UID:
1638106
Concept ID:
C4551965
Disease or Syndrome
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Oculocerebrodental syndrome
MedGen UID:
1674537
Concept ID:
C5193101
Disease or Syndrome
Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
MedGen UID:
1764121
Concept ID:
C5436788
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).
Usmani-Riazuddin syndrome, autosomal dominant
MedGen UID:
1794162
Concept ID:
C5561952
Disease or Syndrome
Autosomal dominant Usmani-Riazzudin syndrome (USRISD) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures and distal limb anomalies (summary by Usmani et al., 2021).
Spondylometaphyseal dysplasia, pagnamenta type
MedGen UID:
1794240
Concept ID:
C5562030
Disease or Syndrome
Spondylometaphyseal dysplasia Pagnamenta type (SMDP) is characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present (Pagnamenta et al., 2022).
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
MedGen UID:
1840932
Concept ID:
C5830296
Disease or Syndrome
Neurodevelopmental disorder with seizures, spasticity, and partial or complete agenesis of the corpus callosum (NEDSSCC) is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals often have feeding difficulties and develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging (Faqeih et al., 2023).

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
Boody BS, Rosenthal BD, Jenkins TJ, Patel AA, Savage JW, Hsu WK
Clin Spine Surg 2017 May;30(4):142-149. doi: 10.1097/BSD.0000000000000522. PMID: 28266956
Pizzutillo PD
Instr Course Lect 2004;53:485-91. PMID: 15116637

Recent clinical studies

Etiology

Nitayarak H, Charntaraviroj P
J Back Musculoskelet Rehabil 2021;34(6):1031-1040. doi: 10.3233/BMR-200088. PMID: 34151819
Sakata J, Nakamura E, Suzuki T, Suzukawa M, Akeda M, Yamazaki T, Ellenbecker TS, Hirose N
Am J Sports Med 2019 Sep;47(11):2709-2716. Epub 2019 Jul 23 doi: 10.1177/0363546519861378. PMID: 31336051
González-Gálvez N, Gea-García GM, Marcos-Pardo PJ
PLoS One 2019;14(4):e0216180. Epub 2019 Apr 29 doi: 10.1371/journal.pone.0216180. PMID: 31034509Free PMC Article
Barrett E, O'Keeffe M, O'Sullivan K, Lewis J, McCreesh K
Man Ther 2016 Dec;26:38-46. Epub 2016 Jul 21 doi: 10.1016/j.math.2016.07.008. PMID: 27475532
Zileli M
Adv Tech Stand Neurosurg 2014;41:71-103. doi: 10.1007/978-3-319-01830-0_4. PMID: 24309921

Diagnosis

Miranda APOC, Penha PJ, Pereira LG, Pessoa WC, João SMA
J Manipulative Physiol Ther 2022 Sep;45(7):508-514. doi: 10.1016/j.jmpt.2022.12.001. PMID: 36922055
Gao A, Li JY, Shao R, Wu TX, Wang YQ, Liu XG, Yu M
Chin Med J (Engl) 2021 Oct 13;134(21):2589-2596. doi: 10.1097/CM9.0000000000001799. PMID: 34653079Free PMC Article
Papalia R, Torre G, Papalia G, Baums MH, Narbona P, Di Lazzaro V, Denaro V
Musculoskelet Surg 2019 Aug;103(2):115-119. Epub 2018 Oct 1 doi: 10.1007/s12306-018-0567-3. PMID: 30276531
Roussouly P, Pinheiro-Franco JL
Eur Spine J 2011 Sep;20 Suppl 5(Suppl 5):578-85. Epub 2011 Jul 28 doi: 10.1007/s00586-011-1924-1. PMID: 21796394Free PMC Article
Horan F, Beighton P
J Bone Joint Surg Br 1976 Aug;58(3):343-6. doi: 10.1302/0301-620X.58B3.956253. PMID: 956253

Therapy

Nitayarak H, Charntaraviroj P
J Back Musculoskelet Rehabil 2021;34(6):1031-1040. doi: 10.3233/BMR-200088. PMID: 34151819
Sakata J, Nakamura E, Suzuki T, Suzukawa M, Akeda M, Yamazaki T, Ellenbecker TS, Hirose N
Am J Sports Med 2019 Sep;47(11):2709-2716. Epub 2019 Jul 23 doi: 10.1177/0363546519861378. PMID: 31336051
González-Gálvez N, Gea-García GM, Marcos-Pardo PJ
PLoS One 2019;14(4):e0216180. Epub 2019 Apr 29 doi: 10.1371/journal.pone.0216180. PMID: 31034509Free PMC Article
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
Seidi F, Rajabi R, Ebrahimi I, Alizadeh MH, Minoonejad H
J Back Musculoskelet Rehabil 2014;27(1):7-16. doi: 10.3233/BMR-130411. PMID: 23948845

Prognosis

Qiu W, Zhou S, Han G, Chen Z, Chen Z, Ding L, Sun Z, Li W
Spine (Phila Pa 1976) 2023 Oct 15;48(20):1446-1454. Epub 2023 Aug 2 doi: 10.1097/BRS.0000000000004788. PMID: 37530101Free PMC Article
Urrutia J, Besa P, Narvaez F, Meissner-Haecker A, Rios C, Piza C
Arch Orthop Trauma Surg 2022 Aug;142(8):1731-1737. Epub 2021 Feb 5 doi: 10.1007/s00402-021-03798-z. PMID: 33544182
Nadeem M, Casper DS, Keller N, Wooster L, Savage JE
World Neurosurg 2021 Jul;151:e995-e1001. Epub 2021 May 21 doi: 10.1016/j.wneu.2021.05.035. PMID: 34023464
Sakata J, Nakamura E, Suzuki T, Suzukawa M, Akeda M, Yamazaki T, Ellenbecker TS, Hirose N
Am J Sports Med 2019 Sep;47(11):2709-2716. Epub 2019 Jul 23 doi: 10.1177/0363546519861378. PMID: 31336051
Bess S, Protopsaltis TS, Lafage V, Lafage R, Ames CP, Errico T, Smith JS; International Spine Study Group
Clin Spine Surg 2016 Feb;29(1):6-16. doi: 10.1097/BSD.0000000000000352. PMID: 26710188

Clinical prediction guides

Walker CT, Agarwal N, Eastlack RK, Mundis GM, Alan N, Iannacone T, Akbarnia BA, Okonkwo DO
J Neurosurg Spine 2023 Jan 1;38(1):84-90. Epub 2022 Sep 2 doi: 10.3171/2022.7.SPINE2298. PMID: 36057126
Nadeem M, Casper DS, Keller N, Wooster L, Savage JE
World Neurosurg 2021 Jul;151:e995-e1001. Epub 2021 May 21 doi: 10.1016/j.wneu.2021.05.035. PMID: 34023464
González-Gálvez N, Gea-García GM, Marcos-Pardo PJ
PLoS One 2019;14(4):e0216180. Epub 2019 Apr 29 doi: 10.1371/journal.pone.0216180. PMID: 31034509Free PMC Article
Papalia R, Torre G, Papalia G, Baums MH, Narbona P, Di Lazzaro V, Denaro V
Musculoskelet Surg 2019 Aug;103(2):115-119. Epub 2018 Oct 1 doi: 10.1007/s12306-018-0567-3. PMID: 30276531
Pizzutillo PD
Instr Course Lect 2004;53:485-91. PMID: 15116637

Recent systematic reviews

Erkilinc M, Baldwin KD, Pasha S, Mistovich RJ
Spine Deform 2022 Mar;10(2):257-266. Epub 2021 Oct 27 doi: 10.1007/s43390-021-00429-w. PMID: 34704232
González-Gálvez N, Gea-García GM, Marcos-Pardo PJ
PLoS One 2019;14(4):e0216180. Epub 2019 Apr 29 doi: 10.1371/journal.pone.0216180. PMID: 31034509Free PMC Article
Barrett E, O'Keeffe M, O'Sullivan K, Lewis J, McCreesh K
Man Ther 2016 Dec;26:38-46. Epub 2016 Jul 21 doi: 10.1016/j.math.2016.07.008. PMID: 27475532
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
Barrett E, McCreesh K, Lewis J
Man Ther 2014 Feb;19(1):10-7. Epub 2013 Oct 26 doi: 10.1016/j.math.2013.09.003. PMID: 24246907

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