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Short stature with nonspecific skeletal abnormalities(SNSK1)

MedGen UID:
906874
•Concept ID:
C4225399
•
Disease or Syndrome
Synonyms: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1; SNSK1
 
Gene (location): NPR2 (9p13.3)
 
Monarch Initiative: MONDO:0014551
OMIM®: 616255

Definition

Short stature with nonspecific skeletal abnormalities-1 (SNSK1) is an autosomal dominant disorder characterized by height that is significantly shorter than that of noncarrier family members. Increased arm span to height, increased sitting height to total height, delayed bone age, and metacarpal shortening have been observed (Olney et al., 2006; Vasques et al., 2013). Biallelic mutation in the NPR2 gene causes acromesomelic dysplasia-1, Maroteaux type (AMD1; 602875). Genetic Heterogeneity of Short Stature with Nonspecific Skeletal Abnormalities SNSK2 (BDA1; 112500) is caused by heterozygous mutation in the IHH gene (600726) on chromosome 2q35. [from OMIM]

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
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
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
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
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
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
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
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

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.
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
Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review.
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
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
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
Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.
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
Hypophosphatasia.
Mornet E
Orphanet J Rare Dis 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. PMID: 17916236Free PMC Article

Therapy

Enzyme replacement therapy for hypophosphatasia-The current paradigm.
Schindeler A, Ludwig K, Munns CF
Clin Endocrinol (Oxf) 2024 Dec;101(6):593-601. Epub 2024 Jul 14 doi: 10.1111/cen.15063. PMID: 39004952
Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
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
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
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
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
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
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
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

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.
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
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
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
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
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
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
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
Hypophosphatasia.
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

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.
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
Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
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
Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review.
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
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
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
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
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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