U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Microcephalic primordial dwarfism

MedGen UID:
1103700
Concept ID:
CN437676
Disease or Syndrome
Orphanet: ORPHA324761

Professional guidelines

PubMed

Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF
Int J Mol Sci 2023 Jul 31;24(15) doi: 10.3390/ijms241512291. PMID: 37569667Free PMC Article
Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH
Am J Med Genet A 2014 Jul;164A(7):1777-83. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36506. PMID: 24700531
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854

Recent clinical studies

Etiology

Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S
Am J Med Genet A 2022 Jul;188(7):2139-2146. Epub 2022 Mar 17 doi: 10.1002/ajmg.a.62725. PMID: 35298084
Bober MB, Jackson AP
Curr Osteoporos Rep 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. PMID: 28409412Free PMC Article
Nair P, Hamzeh AR, Mohamed M, Saif F, Tawfiq N, El Halik M, Al-Ali MT, Bastaki F
Am J Med Genet A 2016 Aug;170(8):2127-32. Epub 2016 May 27 doi: 10.1002/ajmg.a.37766. PMID: 27232581
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959
Klingseisen A, Jackson AP
Genes Dev 2011 Oct 1;25(19):2011-24. doi: 10.1101/gad.169037. PMID: 21979914Free PMC Article

Diagnosis

Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB
Am J Med Genet A 2020 Sep;182(9):2110-2116. Epub 2020 Jul 11 doi: 10.1002/ajmg.a.61754. PMID: 32652690Free PMC Article
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS
Genet Med 2019 Mar;21(3):545-552. Epub 2018 Sep 14 doi: 10.1038/s41436-018-0140-3. PMID: 30214071Free PMC Article
Bober MB, Jackson AP
Curr Osteoporos Rep 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. PMID: 28409412Free PMC Article
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP
Hum Mutat 2014 Jan;35(1):76-85. Epub 2013 Nov 8 doi: 10.1002/humu.22461. PMID: 24123394Free PMC Article
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959

Therapy

Stiff T, Casar Tena T, O'Driscoll M, Jeggo PA, Philipp M
Hum Mol Genet 2016 Apr 15;25(8):1574-87. Epub 2016 Feb 11 doi: 10.1093/hmg/ddw034. PMID: 26908596Free PMC Article
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959
Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP
Am J Med Genet A 2012 Nov;158A(11):2719-25. Epub 2012 Jul 20 doi: 10.1002/ajmg.a.35447. PMID: 22821869

Prognosis

Chen WJ, Huang FC, Shih MH
BMC Pediatr 2019 Sep 11;19(1):329. doi: 10.1186/s12887-019-1685-2. PMID: 31510961Free PMC Article
Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM
Hum Mutat 2019 Aug;40(8):1063-1070. Epub 2019 Jun 23 doi: 10.1002/humu.23776. PMID: 31045292Free PMC Article

Clinical prediction guides

Cuinat S, Quélin C, Pasquier L, Loget P, Aussel D, Odent S, Laquerrière A, Proisy M, Mazoyer S, Delous M, Edery P, Chatron N, Lesca G, Putoux A
Eur J Med Genet 2023 Nov;66(11):104852. Epub 2023 Sep 25 doi: 10.1016/j.ejmg.2023.104852. PMID: 37758168
Yu KW, She ZY, Wei YL, Zhong N
Eur J Cell Biol 2020 Aug;99(6):151107. Epub 2020 Jul 11 doi: 10.1016/j.ejcb.2020.151107. PMID: 32800279
Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kortüm F, Lupski JR
Am J Med Genet A 2019 Oct;179(10):2056-2066. Epub 2019 Aug 13 doi: 10.1002/ajmg.a.61315. PMID: 31407851Free PMC Article
Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM
Hum Mutat 2019 Aug;40(8):1063-1070. Epub 2019 Jun 23 doi: 10.1002/humu.23776. PMID: 31045292Free PMC Article
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
Am J Hum Genet 2015 Mar 5;96(3):412-24. Epub 2015 Feb 26 doi: 10.1016/j.ajhg.2015.01.013. PMID: 25728776Free PMC Article

Recent systematic reviews

Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R
J Neurointerv Surg 2021 Feb;13(2):171-176. Epub 2020 Jun 10 doi: 10.1136/neurintsurg-2020-016069. PMID: 32522788

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...