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Increased vertebral height

MedGen UID:
400628
Concept ID:
C1864853
Finding
Synonym: Tall vertebral bodies
 
HPO: HP:0004570

Definition

Increased top to bottom height of vertebral bodies. [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.
Dwarfism with tall vertebrae
MedGen UID:
338839
Concept ID:
C1851996
Disease or Syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
MedGen UID:
355844
Concept ID:
C1864852
Disease or Syndrome
This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
3M syndrome 1
MedGen UID:
395592
Concept ID:
C2678312
Disease or Syndrome
Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.
Syndromic multisystem autoimmune disease due to ITCH deficiency
MedGen UID:
461999
Concept ID:
C3150649
Disease or Syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
3M syndrome 3
MedGen UID:
481776
Concept ID:
C3280146
Disease or Syndrome
Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.
Microcephaly, short stature, and impaired glucose metabolism 2
MedGen UID:
906140
Concept ID:
C4225195
Disease or Syndrome
Microcephaly, short stature, and impaired glucose metabolism-2 (MSSGM2) is an autosomal recessive syndrome characterized by microcephaly associated with impaired intellectual development, and short stature. Patients develop diabetes in the second or third decade of life, and hypothyroidism and delayed puberty have also been reported (Abdulkarim et al., 2015; Kernohan et al., 2015). For a discussion of genetic heterogeneity of microcephaly, short stature, and impaired glucose metabolism, see MSSGM1 (616033).
Hoxha-Aliu syndrome
MedGen UID:
1846017
Concept ID:
C5882736
Disease or Syndrome
Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023). Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663).
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
MedGen UID:
1844202
Concept ID:
C5882737
Disease or Syndrome
The Guo-Campeau type of spondyloepimetaphyseal dysplasia (SEMDGC) is characterized by severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms (Guo et al., 2023). Biallelic null mutations in the ERI1 gene have been reported to cause a less severe disorder, Hoxha-Alia syndrome, involving digital anomalies and mild intellectual disability (HXAL; 620662).

Recent clinical studies

Etiology

Hoffmann J, Preston G, Whaley J, Khalil JG
J Am Acad Orthop Surg 2023 May 15;31(10):477-489. Epub 2023 Mar 23 doi: 10.5435/JAAOS-D-22-00958. PMID: 36952673
Somma T, DE Rosa A, Mastantuoni C, Esposito F, Meglio V, Romano F, Ricciardi L, de Divitiis O, DI Somma C
Minerva Endocrinol (Torino) 2022 Jun;47(2):189-202. Epub 2021 Dec 9 doi: 10.23736/S2724-6507.21.03515-6. PMID: 34881854
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
Katar S, Aydin Ozturk P, Ozel M, Cevik S, Evran S, Baran O, Akkaya E, Asena M, Cetin A
Pediatr Neurosurg 2020;55(2):86-91. Epub 2020 Jun 24 doi: 10.1159/000508332. PMID: 32580195
Christiansen BA, Bouxsein ML
Curr Osteoporos Rep 2010 Dec;8(4):198-204. doi: 10.1007/s11914-010-0031-2. PMID: 20838942

Diagnosis

Somma T, DE Rosa A, Mastantuoni C, Esposito F, Meglio V, Romano F, Ricciardi L, de Divitiis O, DI Somma C
Minerva Endocrinol (Torino) 2022 Jun;47(2):189-202. Epub 2021 Dec 9 doi: 10.23736/S2724-6507.21.03515-6. PMID: 34881854
Ambrosio MR, Aliberti L, Gagliardi I, Franceschetti P, Zatelli MC
Minerva Obstet Gynecol 2021 Dec;73(6):662-677. doi: 10.23736/S2724-606X.20.04713-9. PMID: 34905874
Olinger C, Bransford R
Orthop Clin North Am 2021 Oct;52(4):451-479. Epub 2021 Jul 29 doi: 10.1016/j.ocl.2021.05.013. PMID: 34538354
Demirel A, Yorubulut M, Ergun N
J Back Musculoskelet Rehabil 2017 Sep 22;30(5):1015-1022. doi: 10.3233/BMR-169581. PMID: 28505956
McCarthy J, Davis A
Am Fam Physician 2016 Jul 1;94(1):44-50. PMID: 27386723

Therapy

Keum BR, Kim HJ, Kim GH, Chang DG
Int J Mol Sci 2023 Dec 11;24(24) doi: 10.3390/ijms242417365. PMID: 38139194Free PMC Article
Holyoak DT, Andreshak TG, Hopkins TJ, Brook AL, Frohbergh ME, Ong KL
Spine J 2022 Dec;22(12):2072-2081. Epub 2022 Jun 24 doi: 10.1016/j.spinee.2022.06.011. PMID: 35753638
Watson SL, Weeks BK, Weis LJ, Harding AT, Horan SA, Beck BR
Osteoporos Int 2019 May;30(5):957-964. Epub 2019 Jan 5 doi: 10.1007/s00198-018-04829-z. PMID: 30612163
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Gamradt SC, Wang JC
Spine J 2005 Jan-Feb;5(1):95-103. doi: 10.1016/j.spinee.2004.09.006. PMID: 15653090

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
Wang Y, Hai Y, Kang N, Yang J, Su Q, Liu Y, Guan L, Meng X
J Bone Joint Surg Am 2023 Jun 21;105(12):915-923. Epub 2023 Apr 26 doi: 10.2106/JBJS.22.01088. PMID: 37099627
Kuo DP, Chiu YW, Chen PT, Tsai YJ, Hou CH, Chen YL, Chu CM
Osteoporos Int 2022 Mar;33(3):589-598. Epub 2021 Oct 9 doi: 10.1007/s00198-021-06178-w. PMID: 34626209
Ward LM, Ma J, Robinson ME, Scharke M, Ho J, Houghton K, Huber A, Scuccimarri R, Barsalou J, Roth J, Shenouda N, Matzinger MA, Lentle B, Jaremko JL, Koujok K, Watanabe Duffy K, Stein R, Sbrocchi AM, Rodd C, Miettunen PM, LeBlanc CMA, Larche M, Jurencak R, Cummings EA, Couch R, Cabral DA, Atkinson S, Alos N, Sykes E, Konji VN, Rauch F, Siminoski K, Lang B
J Clin Endocrinol Metab 2021 Nov 19;106(12):e5195-e5207. doi: 10.1210/clinem/dgab494. PMID: 34232311
Wren TAL, Ponrartana S, Aggabao PC, Poorghasamians E, Skaggs DL, Gilsanz V
Spine (Phila Pa 1976) 2018 Jun 15;43(12):833-838. doi: 10.1097/BRS.0000000000002480. PMID: 29095410

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
Holyoak DT, Andreshak TG, Hopkins TJ, Brook AL, Frohbergh ME, Ong KL
Spine J 2022 Dec;22(12):2072-2081. Epub 2022 Jun 24 doi: 10.1016/j.spinee.2022.06.011. PMID: 35753638
Kuo DP, Chiu YW, Chen PT, Tsai YJ, Hou CH, Chen YL, Chu CM
Osteoporos Int 2022 Mar;33(3):589-598. Epub 2021 Oct 9 doi: 10.1007/s00198-021-06178-w. PMID: 34626209
Formica M, Quarto E, Zanirato A, Mosconi L, Lontaro-Baracchini M, Alessio-Mazzola M, Felli L
Eur Spine J 2021 Jan;30(1):50-62. Epub 2020 Sep 15 doi: 10.1007/s00586-020-06598-y. PMID: 32930843
Katar S, Aydin Ozturk P, Ozel M, Cevik S, Evran S, Baran O, Akkaya E, Asena M, Cetin A
Pediatr Neurosurg 2020;55(2):86-91. Epub 2020 Jun 24 doi: 10.1159/000508332. PMID: 32580195

Recent systematic reviews

O'Rourke J, Townsend CL, Milanzi E, Collins IJ, Castro H, Judd A, Vicari M, Jesson J, Leroy V, Penazzato M, Renaud F
J Int AIDS Soc 2023 Feb;26(2):e26037. doi: 10.1002/jia2.26037. PMID: 36823283Free PMC Article
Petitt JC, Desai A, Kashkoush A, Ahorukomeye P, Potter TO, Stout A, Kelly ML
World Neurosurg 2022 Sep;165:81-88. Epub 2022 Jun 17 doi: 10.1016/j.wneu.2022.06.053. PMID: 35724881
Dai C, Liang G, Zhang Y, Dong Y, Zhou X
J Orthop Surg Res 2022 Mar 12;17(1):161. doi: 10.1186/s13018-022-03038-z. PMID: 35279177Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Gamradt SC, Wang JC
Spine J 2005 Jan-Feb;5(1):95-103. doi: 10.1016/j.spinee.2004.09.006. PMID: 15653090

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