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Short stature with nonspecific skeletal abnormalities(SNSK)

MedGen UID:
906874
Concept ID:
C4225399
Disease or Syndrome
Synonym: SNSK
 
Gene (location): NPR2 (9p13.3)
 
Monarch Initiative: MONDO:0014551
OMIM®: 616255

Clinical features

From HPO
Proportionate short stature
MedGen UID:
163901
Concept ID:
C0878660
Finding
A kind of short stature in which different regions of the body are shortened to a comparable extent.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

Recent clinical studies

Etiology

Birnbaum R, Yosha-Orpaz N, Yanoov-Sharav M, Kidron D, Gur H, Yosovich K, Lerman-Sagie T, Malinger G, Lev D
Am J Med Genet A 2019 Jan;179(1):78-84. Epub 2018 Dec 4 doi: 10.1002/ajmg.a.6. PMID: 30513135
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M
Endocr J 2017 Oct 28;64(10):947-954. Epub 2017 Aug 3 doi: 10.1507/endocrj.EJ17-0150. PMID: 28768959
Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA
J Clin Endocrinol Metab 2013 Oct;98(10):E1636-44. Epub 2013 Sep 3 doi: 10.1210/jc.2013-2142. PMID: 24001744

Diagnosis

Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S
Eur J Med Genet 2021 Apr;64(4):104185. Epub 2021 Mar 2 doi: 10.1016/j.ejmg.2021.104185. PMID: 33662637
Liang H, Miao H, Pan H, Yang H, Gong F, Duan L, Chen S, Wang L, Zhu H
Endocr Pract 2020 Nov;26(11):1255-1268. doi: 10.4158/EP-2019-0518. PMID: 33471655
Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL
Horm Res Paediatr 2019;92(2):115-123. Epub 2019 Nov 12 doi: 10.1159/000503782. PMID: 31715605
Sindoni A, Rodolico C, Pappalardo MA, Portaro S, Benvenga S
Rev Endocr Metab Disord 2016 Dec;17(4):499-519. doi: 10.1007/s11154-016-9357-0. PMID: 27154040
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article

Therapy

Chen H, Zhang S, Sun Y, Chen J, Yuan K, Zhang Y, Yang X, Lin X, Chen R
Orphanet J Rare Dis 2023 Jul 27;18(1):221. doi: 10.1186/s13023-023-02757-8. PMID: 37501190Free PMC Article
Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S
Eur J Med Genet 2021 Apr;64(4):104185. Epub 2021 Mar 2 doi: 10.1016/j.ejmg.2021.104185. PMID: 33662637
Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL
Horm Res Paediatr 2019;92(2):115-123. Epub 2019 Nov 12 doi: 10.1159/000503782. PMID: 31715605
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992

Prognosis

Matsumoto M, Oyake M, Itonaga T, Maeda M, Suenobu S, Sato D, Sasahara Y, Mishima H, Yoshiura KI, Ihara K
Eur J Med Genet 2024 Jun;69:104939. Epub 2024 Apr 15 doi: 10.1016/j.ejmg.2024.104939. PMID: 38614309
Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB
Eur J Med Genet 2023 Nov;66(11):104867. Epub 2023 Oct 13 doi: 10.1016/j.ejmg.2023.104867. PMID: 37839784
Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J
Am J Med Genet A 2018 Sep;176(9):1845-1851. Epub 2018 Jul 28 doi: 10.1002/ajmg.a.40368. PMID: 30055086
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article

Clinical prediction guides

Chen H, Zhang S, Sun Y, Chen J, Yuan K, Zhang Y, Yang X, Lin X, Chen R
Orphanet J Rare Dis 2023 Jul 27;18(1):221. doi: 10.1186/s13023-023-02757-8. PMID: 37501190Free PMC Article
Li Q, Fan X, Lu W, Sun C, Pei Z, Zhang M, Ni J, Wu J, Yu FX, Luo F
Cells 2022 Apr 8;11(8) doi: 10.3390/cells11081265. PMID: 35455946Free PMC Article
Liang H, Miao H, Pan H, Yang H, Gong F, Duan L, Chen S, Wang L, Zhu H
Endocr Pract 2020 Nov;26(11):1255-1268. doi: 10.4158/EP-2019-0518. PMID: 33471655
Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL
Horm Res Paediatr 2019;92(2):115-123. Epub 2019 Nov 12 doi: 10.1159/000503782. PMID: 31715605
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992

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