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Thoracolumbar kyphosis

MedGen UID:
383679
Concept ID:
C1855418
Anatomical Abnormality; Finding
Synonyms: Thoracolumbar gibbus; Thoracolumbar gibbus deformity
 
HPO: HP:0005619

Definition

Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. [from HPO]

Conditions with this feature

Deficiency of alpha-mannosidase
MedGen UID:
7467
Concept ID:
C0024748
Disease or Syndrome
Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. Three major clinical subtypes have been suggested: A mild form recognized after age ten years with absence of skeletal abnormalities, myopathy, and slow progression (type 1). A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression (type 2). A severe form manifested as prenatal loss or early death from progressive central nervous system involvement or infection (type 3). Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease – mainly cerebellar involvement causing ataxia. Periods of psychiatric symptoms are common. Associated medical problems can include corneal opacities, hepatosplenomegaly, aseptic destructive arthritis, and metabolic myopathy. Alpha-mannosidosis is insidiously progressive; some individuals may live into the sixth decade.
Mucopolysaccharidosis type 7
MedGen UID:
43108
Concept ID:
C0085132
Disease or Syndrome
Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.
GM1 gangliosidosis type 2
MedGen UID:
120625
Concept ID:
C0268272
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.
Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant.
Platyspondylic dysplasia, Torrance type
MedGen UID:
331974
Concept ID:
C1835437
Disease or Syndrome
The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005).
Hydrocephaly-tall stature-joint laxity syndrome
MedGen UID:
383828
Concept ID:
C1856051
Disease or Syndrome
A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.
Acromesomelic dysplasia 1, Maroteaux type
MedGen UID:
355199
Concept ID:
C1864356
Disease or Syndrome
The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). Genetic Heterogeneity of Acromesomelic Dysplasia Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21. An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910).
Immunoskeletal dysplasia with neurodevelopmental abnormalities
MedGen UID:
1381460
Concept ID:
C4479452
Disease or Syndrome
Regressive spondylometaphyseal dysplasia
MedGen UID:
1648288
Concept ID:
C4747922
Disease or Syndrome
Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014).
Nizon-Isidor syndrome
MedGen UID:
1715748
Concept ID:
C5394350
Disease or Syndrome
Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by global developmental delay, mildly delayed walking, poor speech and language, variably impaired intellectual development, and behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD). Some patients may have additional features, including nonspecific facial dysmorphism, gastrointestinal difficulties, distal hand anomalies, and thin corpus callosum on brain imaging (summary by Nizon et al., 2019).
Developmental and epileptic encephalopathy 100
MedGen UID:
1809351
Concept ID:
C5676932
Disease or Syndrome
Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS
Pediatrics 2020 Jun;145(6) doi: 10.1542/peds.2020-1010. PMID: 32457214
Terai H, Nakamura H
Int J Mol Sci 2020 Feb 10;21(3) doi: 10.3390/ijms21031171. PMID: 32050679Free PMC Article
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA
Orphanet J Rare Dis 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. PMID: 30658664Free PMC Article

Recent clinical studies

Etiology

In TS, Jung JH, Jung KS, Cho HY
Int J Environ Res Public Health 2021 Aug 7;18(16) doi: 10.3390/ijerph18168369. PMID: 34444119Free PMC Article
Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS
Pediatrics 2020 Jun;145(6) doi: 10.1542/peds.2020-1010. PMID: 32457214
Terai H, Nakamura H
Int J Mol Sci 2020 Feb 10;21(3) doi: 10.3390/ijms21031171. PMID: 32050679Free PMC Article
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Shirley ED, Ain MC
J Am Acad Orthop Surg 2009 Apr;17(4):231-41. doi: 10.5435/00124635-200904000-00004. PMID: 19307672

Diagnosis

Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS
Pediatrics 2020 Jun;145(6) doi: 10.1542/peds.2020-1010. PMID: 32457214
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Shirley ED, Ain MC
J Am Acad Orthop Surg 2009 Apr;17(4):231-41. doi: 10.5435/00124635-200904000-00004. PMID: 19307672
Misra SN, Morgan HW
Neurosurg Focus 2003 Jan 15;14(1):e4. doi: 10.3171/foc.2003.14.1.5. PMID: 15766221
Kim DH, Silber JS, Albert TJ
Instr Course Lect 2003;52:541-50. PMID: 12690880

Therapy

Azzam MM, Guiroy AJ, Galgano MA
World Neurosurg 2023 Feb;170:157. Epub 2022 Nov 16 doi: 10.1016/j.wneu.2022.11.032. PMID: 36400358
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
Terai H, Nakamura H
Int J Mol Sci 2020 Feb 10;21(3) doi: 10.3390/ijms21031171. PMID: 32050679Free PMC Article
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
La Grone MO
Orthop Clin North Am 1988 Apr;19(2):383-93. PMID: 3282206

Prognosis

Diebo BG, Tataryn Z, Alsoof D, Lafage R, Hart RA, Passias PG, Ames CP, Scheer JK, Lewis SJ, Shaffrey CI, Burton DC, Deviren V, Line BG, Soroceanu A, Hamilton DK, Klineberg EO, Mundis GM, Kim HJ, Gum JL, Smith JS, Uribe JS, Kelly MP, Kebaish KM, Gupta MC, Nunley PD, Eastlack RK, Hostin R, Protopsaltis TS, Lenke LG, Schwab FJ, Bess S, Lafage V, Daniels AH; the International Spine Study Group
J Bone Joint Surg Am 2023 Sep 20;105(18):1410-1419. Epub 2023 Jul 21 doi: 10.2106/JBJS.23.00031. PMID: 37478308
Armstrong JA, Pacey V, Tofts LJ
Dev Med Child Neurol 2022 Aug;64(8):989-997. Epub 2022 Mar 2 doi: 10.1111/dmcn.15194. PMID: 35238031Free PMC Article
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA
Orphanet J Rare Dis 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. PMID: 30658664Free PMC Article
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Kim DH, Silber JS, Albert TJ
Instr Course Lect 2003;52:541-50. PMID: 12690880

Clinical prediction guides

Diebo BG, Tataryn Z, Alsoof D, Lafage R, Hart RA, Passias PG, Ames CP, Scheer JK, Lewis SJ, Shaffrey CI, Burton DC, Deviren V, Line BG, Soroceanu A, Hamilton DK, Klineberg EO, Mundis GM, Kim HJ, Gum JL, Smith JS, Uribe JS, Kelly MP, Kebaish KM, Gupta MC, Nunley PD, Eastlack RK, Hostin R, Protopsaltis TS, Lenke LG, Schwab FJ, Bess S, Lafage V, Daniels AH; the International Spine Study Group
J Bone Joint Surg Am 2023 Sep 20;105(18):1410-1419. Epub 2023 Jul 21 doi: 10.2106/JBJS.23.00031. PMID: 37478308
Luo J, Yang Z, Duan C, Feng X, Tan L, Wei Y, Jiang L, Wu T
Sci Rep 2023 May 12;13(1):7747. doi: 10.1038/s41598-023-34475-3. PMID: 37173425Free PMC Article
Huang T, Zhao Z, Wang L, Zhang C, Zhao R, Xiong C, Zhong W, Luo X
Sci Rep 2022 May 24;12(1):8745. doi: 10.1038/s41598-022-12690-8. PMID: 35610284Free PMC Article
Cheng H, Wang GD, Li T, Liu XY, Sun JM
BMC Musculoskelet Disord 2021 Sep 6;22(1):761. doi: 10.1186/s12891-021-04640-8. PMID: 34488716Free PMC Article
Khan BI, Yost MT, Badkoobehi H, Ain MC
Spine Deform 2016 Mar;4(2):145-148. Epub 2016 Feb 2 doi: 10.1016/j.jspd.2015.08.003. PMID: 27927547

Recent systematic reviews

De Marco R, Nasto LA, Strangio A, Piatelli G, Pavanello M
Childs Nerv Syst 2024 May;40(5):1541-1569. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06341-8. PMID: 38459148
Li S, Chen L, Ye F, Yuan H, Chen Z, He P, Feng D
World Neurosurg 2023 May;173:176-187.e1. Epub 2023 Feb 2 doi: 10.1016/j.wneu.2023.01.101. PMID: 36738959
Abbot S, Williams N
ANZ J Surg 2022 Apr;92(4):685-690. Epub 2022 Jan 4 doi: 10.1111/ans.17430. PMID: 34984775
Williams N, Cundy PJ, Eastwod DM
Spine (Phila Pa 1976) 2017 Dec 1;42(23):1817-1825. doi: 10.1097/BRS.0000000000002242. PMID: 28538597
Hu X, Thapa AJ, Cai Z, Wang P, Huang L, Tang Y, Ye J, Cheng K, Shen H
BMC Surg 2016 Jan 22;16:4. doi: 10.1186/s12893-015-0118-x. PMID: 26801999Free PMC Article

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