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Microphthalmia, syndromic 11(MCOPS11)

MedGen UID:
765991
Concept ID:
C3553077
Disease or Syndrome
Synonym: MCOPS11
 
Gene (location): VAX1 (10q25.3)
 
Monarch Initiative: MONDO:0013734
OMIM®: 614402

Definition

Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. [from MONDO]

Clinical features

From HPO
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hippocampal malrotation
MedGen UID:
1611479
Concept ID:
C4539733
Congenital Abnormality
Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Agenesis of pineal gland
MedGen UID:
765992
Concept ID:
C3553078
Finding
Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

Professional guidelines

PubMed

Gupta S, Erickson LA, Lohse CM, Shen W, Pitel BA, Knight SM, Halling KC, Herrera-Hernandez L, Boorjian SA, Thompson RH, Leibovich BC, Jimenez RE, Cheville JC
JAMA Netw Open 2021 Nov 1;4(11):e2132615. doi: 10.1001/jamanetworkopen.2021.32615. PMID: 34767027Free PMC Article
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Delahunt B, Srigley JR, Montironi R, Egevad L
Urology 2014 May;83(5):969-74. Epub 2014 Mar 22 doi: 10.1016/j.urology.2014.02.004. PMID: 24661331

Recent clinical studies

Etiology

Barbosa ICQ, de Paula Gomes L, de Almeida Feitosa IN, Botelho LFB, Barbosa BRC, Barbosa A, Araújo ATV, Melo MDT, Melo ASO, Salemi VMC
PLoS Negl Trop Dis 2023 Nov;17(11):e0011762. Epub 2023 Nov 29 doi: 10.1371/journal.pntd.0011762. PMID: 38019886Free PMC Article
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
Masnada S, Gibelli D, Dolci C, De Giorgis V, Cappella A, Veggiotti P, Sforza C; Italian Aicardi Study Group
Am J Med Genet A 2020 Oct;182(10):2325-2332. Epub 2020 Aug 15 doi: 10.1002/ajmg.a.61791. PMID: 32798292
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511

Diagnosis

Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ
Int J Oral Maxillofac Surg 2020 Sep;49(9):1107-1114. Epub 2020 Mar 23 doi: 10.1016/j.ijom.2020.03.003. PMID: 32217034
Kryvenko ON, Jorda M, Argani P, Epstein JI
Arch Pathol Lab Med 2014 Nov;138(11):1531-41. doi: 10.5858/arpa.2013-0653-RA. PMID: 25357116Free PMC Article
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article
Weiss AH, Kousseff BG, Ross EA, Longbottom J
Arch Ophthalmol 1989 Nov;107(11):1625-30. doi: 10.1001/archopht.1989.01070020703032. PMID: 2818284

Therapy

Schrager NL, Parker SE, Werler MM; for the National Birth Defects Prevention Study
Birth Defects Res 2023 Feb 1;115(3):275-289. Epub 2022 Sep 27 doi: 10.1002/bdr2.2096. PMID: 36168701
Reece AS, Hulse GK
BMC Pharmacol Toxicol 2020 Nov 12;21(1):75. doi: 10.1186/s40360-020-00450-1. PMID: 33183341Free PMC Article
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
Auffarth GU, Blum M, Faller U, Tetz MR, Völcker HE
Ophthalmology 2000 Aug;107(8):1555-60. doi: 10.1016/s0161-6420(00)00240-2. PMID: 10919907

Prognosis

Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P
Genes (Basel) 2020 Jan 28;11(2) doi: 10.3390/genes11020137. PMID: 32013026Free PMC Article
Delahunt B, Srigley JR, Montironi R, Egevad L
Urology 2014 May;83(5):969-74. Epub 2014 Mar 22 doi: 10.1016/j.urology.2014.02.004. PMID: 24661331
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511
Dursun F, Güven A, Morris-Rosendahl D
J Pediatr Endocrinol Metab 2012;25(3-4):379-82. doi: 10.1515/jpem-2011-0459. PMID: 22768674

Clinical prediction guides

Nguyen TT, Truong ATH, Hoang VA, Van Huynh D, Van Nguyen T, Le CT, Dang DTP, Le MHN
J Med Case Rep 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x. PMID: 38178193Free PMC Article
Barbosa ICQ, de Paula Gomes L, de Almeida Feitosa IN, Botelho LFB, Barbosa BRC, Barbosa A, Araújo ATV, Melo MDT, Melo ASO, Salemi VMC
PLoS Negl Trop Dis 2023 Nov;17(11):e0011762. Epub 2023 Nov 29 doi: 10.1371/journal.pntd.0011762. PMID: 38019886Free PMC Article
Masnada S, Gibelli D, Dolci C, De Giorgis V, Cappella A, Veggiotti P, Sforza C; Italian Aicardi Study Group
Am J Med Genet A 2020 Oct;182(10):2325-2332. Epub 2020 Aug 15 doi: 10.1002/ajmg.a.61791. PMID: 32798292
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article

Recent systematic reviews

Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ
Int J Oral Maxillofac Surg 2020 Sep;49(9):1107-1114. Epub 2020 Mar 23 doi: 10.1016/j.ijom.2020.03.003. PMID: 32217034

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