U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

MedGen UID:
1830117
•Concept ID:
C5681443
•
Disease or Syndrome
Synonyms: Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome; microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
SNOMED CT: Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (1279889005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0035027
Orphanet: ORPHA521445

Definition

A rare genetic disease with a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum and prominent ears. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Professional guidelines

PubMed

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

A genotype-first analysis in a cohort of Mullerian anomaly.
Tian W, Chen N, Ye Y, Ma C, Qin C, Niu Y, Xiaoxin L, Zhao L, Zhao H, Liang Z, Song S, Wang Y, Chen Z, Lin J, Yan Z, Duan J, Zhao S, Zhang TJ, Qiu G, Wu Z, Wu N, Zhu L
J Hum Genet 2022 Jun;67(6):347-352. Epub 2022 Jan 13 doi: 10.1038/s10038-021-00996-w. PMID: 35022528
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.
Jongmans MC, Loeffen JL, Waanders E, Hoogerbrugge PM, Ligtenberg MJ, Kuiper RP, Hoogerbrugge N
Eur J Med Genet 2016 Mar;59(3):116-25. Epub 2016 Jan 26 doi: 10.1016/j.ejmg.2016.01.008. PMID: 26825391
Overgrowth syndromes: a classification.
Neri G, Moscarda M
Endocr Dev 2009;14:53-60. doi: 10.1159/000207476. PMID: 19293574
Diagnosis in dysmorphology: clues from the skin.
Smithson SF, Winter RM
Br J Dermatol 2004 Nov;151(5):953-60. doi: 10.1111/j.1365-2133.2004.06266.x. PMID: 15541072

Diagnosis

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
SACRAL syndrome.
Yadav DK, Panda SS, Teckchandani N, Bagga D
BMJ Case Rep 2013 Jul 31;2013 doi: 10.1136/bcr-2013-200215. PMID: 23904432Free PMC Article
Upper-extremity congenital anomalies.
Kozin SH
J Bone Joint Surg Am 2003 Aug;85(8):1564-76. doi: 10.2106/00004623-200308000-00021. PMID: 12925640
Congenital glenoid dysplasia.
Currarino G, Sheffield E, Twickler D
Pediatr Radiol 1998 Jan;28(1):30-7. doi: 10.1007/s002470050287. PMID: 9426270
Pseudo-trisomy 13 syndrome.
Cohen MM Jr, Gorlin RJ
Am J Med Genet 1991 Jun 1;39(3):332-5; discussion 336-7. doi: 10.1002/ajmg.1320390316. PMID: 1867286

Therapy

Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
How I manage patients with Fanconi anaemia.
Dufour C
Br J Haematol 2017 Jul;178(1):32-47. Epub 2017 May 5 doi: 10.1111/bjh.14615. PMID: 28474441
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
VACTERL-H syndrome.
Herman TE, Siegel MJ
J Perinatol 2002 Sep;22(6):496-8. doi: 10.1038/sj.jp.7210765. PMID: 12168129
Fetal alcohol syndrome.
Thackray H, Tifft C
Pediatr Rev 2001 Feb;22(2):47-55. doi: 10.1542/pir.22-2-47. PMID: 11157101

Prognosis

Pulmonary Agenesis.
Chawla RK, Madan A, Chawla A, Arora HN, Chawla K
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):251-3. PMID: 27164736
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Ablepharon-macrostomia syndrome.
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864
The Wagner-Stickler syndrome complex.
Godel V, Nemet P, Lazar M
Doc Ophthalmol 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204. PMID: 7035111

Clinical prediction guides

Three cases of tetrasomy 9p.
Dhandha S, Hogge WA, Surti U, McPherson E
Am J Med Genet 2002 Dec 15;113(4):375-80. doi: 10.1002/ajmg.b.10826. PMID: 12457411
The 22q11 deletion syndromes.
Scambler PJ
Hum Mol Genet 2000 Oct;9(16):2421-6. doi: 10.1093/hmg/9.16.2421. PMID: 11005797
Congenital glenoid dysplasia.
Currarino G, Sheffield E, Twickler D
Pediatr Radiol 1998 Jan;28(1):30-7. doi: 10.1007/s002470050287. PMID: 9426270
Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL.
Schüler L, Salzano FM
Am J Med Genet 1994 Jan 1;49(1):29-35. doi: 10.1002/ajmg.1320490108. PMID: 8172248
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS
Genet Med 2023 Mar;25(3):100344. Epub 2023 Feb 2 doi: 10.1016/j.gim.2022.11.012. PMID: 36729052
Treatment of keratosis pilaris and its variants: a systematic review.
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Impact of fetal alcohol exposure on body systems: A systematic review.
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Oral health of patients with intellectual disabilities: a systematic review.
Anders PL, Davis EL
Spec Care Dentist 2010 May-Jun;30(3):110-7. doi: 10.1111/j.1754-4505.2010.00136.x. PMID: 20500706

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

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...